Canonical Allele Identifier: CA772455095

Gene: KANSL1

Linked Data

• dbSNP Id: rs1324958449
• gnomAD v4: 17-46039322-GGCA-G
• MyVariant Identifiers: chr17:g.44116689_44116691del (hg19) ; chr17:g.46039323_46039325del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46039327_46039329del , CM000679.2:g.46039327_46039329del	GRCh38
NC_000017.10:g.44116693_44116695del , CM000679.1:g.44116693_44116695del	GRCh37
NC_000017.9:g.41472540_41472542del	NCBI36
NG_032784.1:g.191050_191052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2204-110_2204-108del MANE Select	ENSP00000387393.3:n.2204-110_2204-108del
ENST00000572904.6:c.2204-110_2204-108del	ENSP00000461484.1:n.2204-110_2204-108del
ENST00000573286.2:n.3777_3779del
ENST00000574590.6:c.2204-110_2204-108del	ENSP00000461812.2:n.2204-110_2204-108del
ENST00000575318.6:c.2203+377_2203+379del	ENSP00000461299.1:n.2203+377_2203+379del
ENST00000638275.1:c.2203+377_2203+379del	ENSP00000492576.1:n.2203+377_2203+379del
ENST00000639150.1:c.938-110_938-108del	ENSP00000491906.1:n.938-110_938-108del
ENST00000639531.1:c.2203+377_2203+379del	ENSP00000491765.1:n.2203+377_2203+379del
ENST00000639853.1:c.1374+377_1374+379del
ENST00000640636.1:c.345+377_345+379del
ENST00000648792.1:c.2204-110_2204-108del	ENSP00000497628.1:n.2204-110_2204-108del
ENST00000262419.10:c.2204-110_2204-108del	ENSP00000262419.6:n.2204-110_2204-108del
ENST00000432791.5:c.2204-110_2204-108del	ENSP00000387393.2:n.2204-110_2204-108del
ENST00000572218.5:n.6421-110_6421-108del
ENST00000572679.1:n.226_228del
ENST00000572904.5:c.2204-110_2204-108del	ENSP00000461484.1:n.2204-110_2204-108del
ENST00000574590.5:c.2204-110_2204-108del	ENSP00000461812.1:n.2204-110_2204-108del
ENST00000575318.5:c.2203+377_2203+379del	ENSP00000461299.1:n.2203+377_2203+379del
ENST00000576870.5:n.364+377_364+379del
NM_001193465.1:c.2204-110_2204-108del	NP_001180394.1:n.2204-110_2204-108del
NM_001193466.1:c.2204-110_2204-108del	NP_001180395.1:n.2204-110_2204-108del
NM_015443.3:c.2204-110_2204-108del	NP_056258.1:n.2204-110_2204-108del
XM_006721823.1:c.2204-110_2204-108del	XP_006721886.1:n.2204-110_2204-108del
XM_006721824.2:c.2204-110_2204-108del	XP_006721887.1:n.2204-110_2204-108del
XM_011524628.1:c.2204-110_2204-108del	XP_011522930.1:n.2204-110_2204-108del
XM_011524629.1:c.2102-110_2102-108del	XP_011522931.1:n.2102-110_2102-108del
XM_011524630.1:c.2203+377_2203+379del	XP_011522932.1:n.2203+377_2203+379del
XM_011524631.1:c.2203+377_2203+379del	XP_011522933.1:n.2203+377_2203+379del
XM_011524632.1:c.974-110_974-108del	XP_011522934.1:n.974-110_974-108del
XM_006721823.2:c.2204-110_2204-108del	XP_006721886.1:n.2204-110_2204-108del
XM_006721824.4:c.2204-110_2204-108del	XP_006721887.1:n.2204-110_2204-108del
XM_011524628.3:c.2204-110_2204-108del	XP_011522930.1:n.2204-110_2204-108del
XM_011524629.3:c.2102-110_2102-108del	XP_011522931.1:n.2102-110_2102-108del
XM_011524630.3:c.2203+377_2203+379del	XP_011522932.1:n.2203+377_2203+379del
XM_011524631.3:c.2203+377_2203+379del	XP_011522933.1:n.2203+377_2203+379del
XM_011524632.3:c.974-110_974-108del	XP_011522934.1:n.974-110_974-108del
XM_017024488.2:c.2203+377_2203+379del	XP_016879977.1:n.2203+377_2203+379del
XM_017024489.1:c.2102-110_2102-108del	XP_016879978.1:n.2102-110_2102-108del
NM_001193466.2:c.2204-110_2204-108del	NP_001180395.1:n.2204-110_2204-108del
NM_015443.4:c.2204-110_2204-108del MANE Select	NP_056258.1:n.2204-110_2204-108del
NM_001193465.2:c.2204-110_2204-108del	NP_001180394.1:n.2204-110_2204-108del
NM_001379198.1:c.2204-110_2204-108del	NP_001366127.1:n.2204-110_2204-108del