Canonical Allele Identifier: CA626336389

Gene: KANSL1

Linked Data

• dbSNP Id: rs1398798135
• gnomAD v2: 17-44115395-T-TCCC
• gnomAD v3: 17-46038029-T-TCCC
• gnomAD v4: 17-46038029-T-TCCC
• MyVariant Identifiers: chr17:g.44115395_44115396insCCC (hg19) ; chr17:g.46038029_46038030insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038030_46038032dup , CM000679.2:g.46038030_46038032dup	GRCh38
NC_000017.10:g.44115396_44115398dup , CM000679.1:g.44115396_44115398dup	GRCh37
NC_000017.9:g.41471243_41471245dup	NCBI36
NG_032784.1:g.192343_192345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2541+506_2541+508dup MANE Select	ENSP00000387393.3:n.2541+506_2541+508dup
ENST00000572904.6:c.2541+506_2541+508dup	ENSP00000461484.1:n.2541+506_2541+508dup
ENST00000573286.2:n.4730_4732dup
ENST00000574590.6:c.2541+506_2541+508dup	ENSP00000461812.2:n.2541+506_2541+508dup
ENST00000575318.6:c.2352+506_2352+508dup	ENSP00000461299.1:n.2352+506_2352+508dup
ENST00000576137.2:n.538+506_538+508dup
ENST00000638275.1:c.2352+506_2352+508dup	ENSP00000492576.1:n.2352+506_2352+508dup
ENST00000639150.1:c.1275+506_1275+508dup	ENSP00000491906.1:n.1275+506_1275+508dup
ENST00000639467.1:c.204+506_204+508dup	ENSP00000492741.1:n.204+506_204+508dup
ENST00000639531.1:c.2352+506_2352+508dup	ENSP00000491765.1:n.2352+506_2352+508dup
ENST00000640636.1:c.494+506_494+508dup
ENST00000648792.1:c.2541+506_2541+508dup	ENSP00000497628.1:n.2541+506_2541+508dup
ENST00000262419.10:c.2541+506_2541+508dup	ENSP00000262419.6:n.2541+506_2541+508dup
ENST00000432791.5:c.2541+506_2541+508dup	ENSP00000387393.2:n.2541+506_2541+508dup
ENST00000572218.5:n.6758+506_6758+508dup
ENST00000572904.5:c.2541+506_2541+508dup	ENSP00000461484.1:n.2541+506_2541+508dup
ENST00000573286.1:n.903_905dup
ENST00000574590.5:c.2541+506_2541+508dup	ENSP00000461812.1:n.2541+506_2541+508dup
ENST00000575318.5:c.2352+506_2352+508dup	ENSP00000461299.1:n.2352+506_2352+508dup
ENST00000576137.1:n.180+506_180+508dup
ENST00000576870.5:n.513+506_513+508dup
NM_001193465.1:c.2541+506_2541+508dup	NP_001180394.1:n.2541+506_2541+508dup
NM_001193466.1:c.2541+506_2541+508dup	NP_001180395.1:n.2541+506_2541+508dup
NM_015443.3:c.2541+506_2541+508dup	NP_056258.1:n.2541+506_2541+508dup
XM_006721823.1:c.2541+506_2541+508dup	XP_006721886.1:n.2541+506_2541+508dup
XM_006721824.2:c.2541+506_2541+508dup	XP_006721887.1:n.2541+506_2541+508dup
XM_011524628.1:c.2541+506_2541+508dup	XP_011522930.1:n.2541+506_2541+508dup
XM_011524629.1:c.2439+506_2439+508dup	XP_011522931.1:n.2439+506_2439+508dup
XM_011524630.1:c.2352+506_2352+508dup	XP_011522932.1:n.2352+506_2352+508dup
XM_011524631.1:c.2352+506_2352+508dup	XP_011522933.1:n.2352+506_2352+508dup
XM_011524632.1:c.1311+506_1311+508dup	XP_011522934.1:n.1311+506_1311+508dup
XM_006721823.2:c.2541+506_2541+508dup	XP_006721886.1:n.2541+506_2541+508dup
XM_006721824.4:c.2541+506_2541+508dup	XP_006721887.1:n.2541+506_2541+508dup
XM_011524628.3:c.2541+506_2541+508dup	XP_011522930.1:n.2541+506_2541+508dup
XM_011524629.3:c.2439+506_2439+508dup	XP_011522931.1:n.2439+506_2439+508dup
XM_011524630.3:c.2352+506_2352+508dup	XP_011522932.1:n.2352+506_2352+508dup
XM_011524631.3:c.2352+506_2352+508dup	XP_011522933.1:n.2352+506_2352+508dup
XM_011524632.3:c.1311+506_1311+508dup	XP_011522934.1:n.1311+506_1311+508dup
XM_017024488.2:c.2352+506_2352+508dup	XP_016879977.1:n.2352+506_2352+508dup
XM_017024489.1:c.*308_*310dup	XP_016879978.1:n.*308_*310dup
NM_001193466.2:c.2541+506_2541+508dup	NP_001180395.1:n.2541+506_2541+508dup
NM_015443.4:c.2541+506_2541+508dup MANE Select	NP_056258.1:n.2541+506_2541+508dup
NM_001193465.2:c.2541+506_2541+508dup	NP_001180394.1:n.2541+506_2541+508dup
NM_001379198.1:c.2541+506_2541+508dup	NP_001366127.1:n.2541+506_2541+508dup