Canonical Allele Identifier: CA2262111221

Gene: KANSL1

Linked Data

• dbSNP Id: rs2077041636
• gnomAD v4: 17-46032606-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032606A>G , CM000679.2:g.46032606A>G	GRCh38
NC_000017.10:g.44109972A>G , CM000679.1:g.44109972A>G	GRCh37
NC_000017.9:g.41465819A>G	NCBI36
NG_032784.1:g.197769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2838-307T>C MANE Select	ENSP00000387393.3:n.2838-307T>C
ENST00000572904.6:c.2838-307T>C	ENSP00000461484.1:n.2838-307T>C
ENST00000574590.6:c.2835-307T>C	ENSP00000461812.2:n.2835-307T>C
ENST00000575318.6:c.2646-307T>C	ENSP00000461299.1:n.2646-307T>C
ENST00000638275.1:c.2646-307T>C	ENSP00000492576.1:n.2646-307T>C
ENST00000638291.1:n.666-307T>C
ENST00000638551.1:n.786-307T>C
ENST00000639467.1:c.495-307T>C	ENSP00000492741.1:n.495-307T>C
ENST00000639531.1:c.2649-307T>C	ENSP00000491765.1:n.2649-307T>C
ENST00000639805.1:n.255-307T>C
ENST00000640092.1:n.1525-307T>C
ENST00000640751.1:n.433-307T>C
ENST00000648792.1:c.2838-439T>C	ENSP00000497628.1:n.2838-439T>C
ENST00000262419.10:c.2838-307T>C	ENSP00000262419.6:n.2838-307T>C
ENST00000432791.5:c.2835-307T>C	ENSP00000387393.2:n.2835-307T>C
ENST00000572218.5:n.7055-307T>C
ENST00000572904.5:c.2838-307T>C	ENSP00000461484.1:n.2838-307T>C
ENST00000573682.1:n.224-307T>C
ENST00000574590.5:c.2838-307T>C	ENSP00000461812.1:n.2838-307T>C
ENST00000575318.5:c.2646-307T>C	ENSP00000461299.1:n.2646-307T>C
ENST00000576870.5:n.810-307T>C
NM_001193465.1:c.2835-307T>C	NP_001180394.1:n.2835-307T>C
NM_001193466.1:c.2838-307T>C	NP_001180395.1:n.2838-307T>C
NM_015443.3:c.2838-307T>C	NP_056258.1:n.2838-307T>C
XM_006721823.1:c.2838-307T>C	XP_006721886.1:n.2838-307T>C
XM_006721824.2:c.2838-307T>C	XP_006721887.1:n.2838-307T>C
XM_011524628.1:c.2835-307T>C	XP_011522930.1:n.2835-307T>C
XM_011524629.1:c.2736-307T>C	XP_011522931.1:n.2736-307T>C
XM_011524630.1:c.2649-307T>C	XP_011522932.1:n.2649-307T>C
XM_011524631.1:c.2646-307T>C	XP_011522933.1:n.2646-307T>C
XM_011524632.1:c.1608-307T>C	XP_011522934.1:n.1608-307T>C
XM_006721823.2:c.2838-307T>C	XP_006721886.1:n.2838-307T>C
XM_006721824.4:c.2838-307T>C	XP_006721887.1:n.2838-307T>C
XM_011524628.3:c.2835-307T>C	XP_011522930.1:n.2835-307T>C
XM_011524629.3:c.2736-307T>C	XP_011522931.1:n.2736-307T>C
XM_011524630.3:c.2649-307T>C	XP_011522932.1:n.2649-307T>C
XM_011524631.3:c.2646-307T>C	XP_011522933.1:n.2646-307T>C
XM_011524632.3:c.1608-307T>C	XP_011522934.1:n.1608-307T>C
XM_017024488.2:c.2646-307T>C	XP_016879977.1:n.2646-307T>C
NM_001193466.2:c.2838-307T>C	NP_001180395.1:n.2838-307T>C
NM_015443.4:c.2838-307T>C MANE Select	NP_056258.1:n.2838-307T>C
NM_001193465.2:c.2835-307T>C	NP_001180394.1:n.2835-307T>C
NM_001379198.1:c.2838-307T>C	NP_001366127.1:n.2838-307T>C