Canonical Allele Identifier: CA2638380058

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46038503-A-ATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038503_46038504insTCTC , CM000679.2:g.46038503_46038504insTCTC	GRCh38
NC_000017.10:g.44115869_44115870insTCTC , CM000679.1:g.44115869_44115870insTCTC	GRCh37
NC_000017.9:g.41471716_41471717insTCTC	NCBI36
NG_032784.1:g.191871_191872insGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2541+34_2541+35insGAGA MANE Select	ENSP00000387393.3:n.2541+34_2541+35insGAG...
ENST00000572904.6:c.2541+34_2541+35insGAGA	ENSP00000461484.1:n.2541+34_2541+35insGAG...
ENST00000573286.2:n.4258_4259insGAGA
ENST00000574590.6:c.2541+34_2541+35insGAGA	ENSP00000461812.2:n.2541+34_2541+35insGAG...
ENST00000575318.6:c.2352+34_2352+35insGAGA	ENSP00000461299.1:n.2352+34_2352+35insGAG...
ENST00000576137.2:n.538+34_538+35insGAGA
ENST00000638275.1:c.2352+34_2352+35insGAGA	ENSP00000492576.1:n.2352+34_2352+35insGAG...
ENST00000639150.1:c.1275+34_1275+35insGAGA	ENSP00000491906.1:n.1275+34_1275+35insGAG...
ENST00000639467.1:c.204+34_204+35insGAGA	ENSP00000492741.1:n.204+34_204+35insGAGA
ENST00000639531.1:c.2352+34_2352+35insGAGA	ENSP00000491765.1:n.2352+34_2352+35insGAG...
ENST00000640636.1:c.494+34_494+35insGAGA
ENST00000648792.1:c.2541+34_2541+35insGAGA	ENSP00000497628.1:n.2541+34_2541+35insGAG...
ENST00000262419.10:c.2541+34_2541+35insGAGA	ENSP00000262419.6:n.2541+34_2541+35insGAG...
ENST00000432791.5:c.2541+34_2541+35insGAGA	ENSP00000387393.2:n.2541+34_2541+35insGAG...
ENST00000572218.5:n.6758+34_6758+35insGAGA
ENST00000572904.5:c.2541+34_2541+35insGAGA	ENSP00000461484.1:n.2541+34_2541+35insGAG...
ENST00000573286.1:n.431_432insGAGA
ENST00000574590.5:c.2541+34_2541+35insGAGA	ENSP00000461812.1:n.2541+34_2541+35insGAG...
ENST00000575318.5:c.2352+34_2352+35insGAGA	ENSP00000461299.1:n.2352+34_2352+35insGAG...
ENST00000576137.1:n.180+34_180+35insGAGA
ENST00000576870.5:n.513+34_513+35insGAGA
NM_001193465.1:c.2541+34_2541+35insGAGA	NP_001180394.1:n.2541+34_2541+35insGAGA
NM_001193466.1:c.2541+34_2541+35insGAGA	NP_001180395.1:n.2541+34_2541+35insGAGA
NM_015443.3:c.2541+34_2541+35insGAGA	NP_056258.1:n.2541+34_2541+35insGAGA
XM_006721823.1:c.2541+34_2541+35insGAGA	XP_006721886.1:n.2541+34_2541+35insGAGA
XM_006721824.2:c.2541+34_2541+35insGAGA	XP_006721887.1:n.2541+34_2541+35insGAGA
XM_011524628.1:c.2541+34_2541+35insGAGA	XP_011522930.1:n.2541+34_2541+35insGAGA
XM_011524629.1:c.2439+34_2439+35insGAGA	XP_011522931.1:n.2439+34_2439+35insGAGA
XM_011524630.1:c.2352+34_2352+35insGAGA	XP_011522932.1:n.2352+34_2352+35insGAGA
XM_011524631.1:c.2352+34_2352+35insGAGA	XP_011522933.1:n.2352+34_2352+35insGAGA
XM_011524632.1:c.1311+34_1311+35insGAGA	XP_011522934.1:n.1311+34_1311+35insGAGA
XM_006721823.2:c.2541+34_2541+35insGAGA	XP_006721886.1:n.2541+34_2541+35insGAGA
XM_006721824.4:c.2541+34_2541+35insGAGA	XP_006721887.1:n.2541+34_2541+35insGAGA
XM_011524628.3:c.2541+34_2541+35insGAGA	XP_011522930.1:n.2541+34_2541+35insGAGA
XM_011524629.3:c.2439+34_2439+35insGAGA	XP_011522931.1:n.2439+34_2439+35insGAGA
XM_011524630.3:c.2352+34_2352+35insGAGA	XP_011522932.1:n.2352+34_2352+35insGAGA
XM_011524631.3:c.2352+34_2352+35insGAGA	XP_011522933.1:n.2352+34_2352+35insGAGA
XM_011524632.3:c.1311+34_1311+35insGAGA	XP_011522934.1:n.1311+34_1311+35insGAGA
XM_017024488.2:c.2352+34_2352+35insGAGA	XP_016879977.1:n.2352+34_2352+35insGAGA
XM_017024489.1:c.2473_2474insGAGA	XP_016879978.1:p.Leu825ArgfsTer21
NM_001193466.2:c.2541+34_2541+35insGAGA	NP_001180395.1:n.2541+34_2541+35insGAGA
NM_015443.4:c.2541+34_2541+35insGAGA MANE Select	NP_056258.1:n.2541+34_2541+35insGAGA
NM_001193465.2:c.2541+34_2541+35insGAGA	NP_001180394.1:n.2541+34_2541+35insGAGA
NM_001379198.1:c.2541+34_2541+35insGAGA	NP_001366127.1:n.2541+34_2541+35insGAGA