Canonical Allele Identifier: CA2638379198

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46038162-C-CATCCTCCACACAGTCCCTTGGTGCGACAGCTCTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038162_46038163insATCCTCCACACAGTCCCTTGGTGCGACAGCTCTCCA , CM000679.2:g.46038162_46038163insATCCTCCACACAGTCCCTTGGTGCGACAGCTCTCCA	GRCh38
NC_000017.10:g.44115528_44115529insATCCTCCACACAGTCCCTTGGTGCGACAGCTCTCCA , CM000679.1:g.44115528_44115529insATCCTCCACACAGTCCCTTGGTGCGACAGCTCTCCA	GRCh37
NC_000017.9:g.41471375_41471376insATCCTCCACACAGTCCCTTGGTGCGACAGCTCTCCA	NCBI36
NG_032784.1:g.192212_192213insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT MANE Select	ENSP00000387393.3:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000572904.6:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000461484.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000573286.2:n.4599_4600insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
ENST00000574590.6:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000461812.2:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000575318.6:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000461299.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000576137.2:n.538+375_538+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
ENST00000638275.1:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000492576.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000639150.1:c.1275+375_1275+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000491906.1:n.1275+375_1275+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000639467.1:c.204+375_204+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000492741.1:n.204+375_204+376insTGGAGAGCTGTCGCACCAAGGGA...
ENST00000639531.1:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000491765.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000640636.1:c.494+375_494+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
ENST00000648792.1:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000497628.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000262419.10:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000262419.6:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000432791.5:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000387393.2:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000572218.5:n.6758+375_6758+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
ENST00000572904.5:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000461484.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000573286.1:n.772_773insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
ENST00000574590.5:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000461812.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000575318.5:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	ENSP00000461299.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGG...
ENST00000576137.1:n.180+375_180+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
ENST00000576870.5:n.513+375_513+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT
NM_001193465.1:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	NP_001180394.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
NM_001193466.1:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	NP_001180395.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
NM_015443.3:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	NP_056258.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGT...
XM_006721823.1:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_006721886.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_006721824.2:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_006721887.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524628.1:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522930.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524629.1:c.2439+375_2439+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522931.1:n.2439+375_2439+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524630.1:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522932.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524631.1:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522933.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524632.1:c.1311+375_1311+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522934.1:n.1311+375_1311+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_006721823.2:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_006721886.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_006721824.4:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_006721887.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524628.3:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522930.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524629.3:c.2439+375_2439+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522931.1:n.2439+375_2439+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524630.3:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522932.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524631.3:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522933.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_011524632.3:c.1311+375_1311+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_011522934.1:n.1311+375_1311+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_017024488.2:c.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_016879977.1:n.2352+375_2352+376insTGGAGAGCTGTCGCACCAAGGGAC...
XM_017024489.1:c.*177_*178insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	XP_016879978.1:n.*177_*178insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGA...
NM_001193466.2:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	NP_001180395.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
NM_015443.4:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT MANE Select	NP_056258.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGT...
NM_001193465.2:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	NP_001180394.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...
NM_001379198.1:c.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGACTGTGTGGAGGAT	NP_001366127.1:n.2541+375_2541+376insTGGAGAGCTGTCGCACCAAGGGAC...