Canonical Allele Identifier: CA772441911

Gene: KANSL1

Linked Data

• dbSNP Id: rs1449024696
• gnomAD v4: 17-46170790-GATTC-G
• MyVariant Identifiers: chr17:g.44248157_44248160del (hg19) ; chr17:g.46170791_46170794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46170799_46170802del , CM000679.2:g.46170799_46170802del	GRCh38
NC_000017.10:g.44248165_44248168del , CM000679.1:g.44248165_44248168del	GRCh37
NC_000017.9:g.41603942_41603945del	NCBI36
NG_032784.1:g.59581_59584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.1289+61_1289+64del MANE Select	ENSP00000387393.3:n.1289+61_1289+64del
ENST00000571698.2:c.1289+61_1289+64del	ENSP00000459330.2:n.1289+61_1289+64del
ENST00000572904.6:c.1289+61_1289+64del	ENSP00000461484.1:n.1289+61_1289+64del
ENST00000574590.6:c.1289+61_1289+64del	ENSP00000461812.2:n.1289+61_1289+64del
ENST00000574655.6:n.1543+61_1543+64del
ENST00000575318.6:c.1289+61_1289+64del	ENSP00000461299.1:n.1289+61_1289+64del
ENST00000576248.2:n.369+61_369+64del
ENST00000638269.1:n.1533+61_1533+64del
ENST00000638275.1:c.1289+61_1289+64del	ENSP00000492576.1:n.1289+61_1289+64del
ENST00000638902.1:n.1454_1457del
ENST00000639099.1:n.1539+61_1539+64del
ENST00000639150.1:c.23+52877_23+52880del	ENSP00000491906.1:n.23+52877_23+52880del
ENST00000639356.1:n.1539+61_1539+64del
ENST00000639375.1:n.1527+61_1527+64del
ENST00000639531.1:c.1289+61_1289+64del	ENSP00000491765.1:n.1289+61_1289+64del
ENST00000639853.1:c.562+61_562+64del
ENST00000648792.1:c.1289+61_1289+64del	ENSP00000497628.1:n.1289+61_1289+64del
ENST00000262419.10:c.1289+61_1289+64del	ENSP00000262419.6:n.1289+61_1289+64del
ENST00000432791.5:c.1289+61_1289+64del	ENSP00000387393.2:n.1289+61_1289+64del
ENST00000572904.5:c.1289+61_1289+64del	ENSP00000461484.1:n.1289+61_1289+64del
ENST00000574590.5:c.1289+61_1289+64del	ENSP00000461812.1:n.1289+61_1289+64del
ENST00000575318.5:c.1289+61_1289+64del	ENSP00000461299.1:n.1289+61_1289+64del
ENST00000576248.1:n.265+61_265+64del
ENST00000577114.1:n.86+61_86+64del
NM_001193465.1:c.1289+61_1289+64del	NP_001180394.1:n.1289+61_1289+64del
NM_001193466.1:c.1289+61_1289+64del	NP_001180395.1:n.1289+61_1289+64del
NM_015443.3:c.1289+61_1289+64del	NP_056258.1:n.1289+61_1289+64del
XM_006721823.1:c.1289+61_1289+64del	XP_006721886.1:n.1289+61_1289+64del
XM_006721824.2:c.1289+61_1289+64del	XP_006721887.1:n.1289+61_1289+64del
XM_011524628.1:c.1289+61_1289+64del	XP_011522930.1:n.1289+61_1289+64del
XM_011524629.1:c.1289+61_1289+64del	XP_011522931.1:n.1289+61_1289+64del
XM_011524630.1:c.1289+61_1289+64del	XP_011522932.1:n.1289+61_1289+64del
XM_011524631.1:c.1289+61_1289+64del	XP_011522933.1:n.1289+61_1289+64del
XM_011524632.1:c.10+61_10+64del	XP_011522934.1:n.10+61_10+64del
XM_006721823.2:c.1289+61_1289+64del	XP_006721886.1:n.1289+61_1289+64del
XM_006721824.4:c.1289+61_1289+64del	XP_006721887.1:n.1289+61_1289+64del
XM_011524628.3:c.1289+61_1289+64del	XP_011522930.1:n.1289+61_1289+64del
XM_011524629.3:c.1289+61_1289+64del	XP_011522931.1:n.1289+61_1289+64del
XM_011524630.3:c.1289+61_1289+64del	XP_011522932.1:n.1289+61_1289+64del
XM_011524631.3:c.1289+61_1289+64del	XP_011522933.1:n.1289+61_1289+64del
XM_011524632.3:c.10+61_10+64del	XP_011522934.1:n.10+61_10+64del
XM_017024488.2:c.1289+61_1289+64del	XP_016879977.1:n.1289+61_1289+64del
XM_017024489.1:c.1289+61_1289+64del	XP_016879978.1:n.1289+61_1289+64del
NM_001193466.2:c.1289+61_1289+64del	NP_001180395.1:n.1289+61_1289+64del
NM_015443.4:c.1289+61_1289+64del MANE Select	NP_056258.1:n.1289+61_1289+64del
NM_001193465.2:c.1289+61_1289+64del	NP_001180394.1:n.1289+61_1289+64del
NM_001379198.1:c.1289+61_1289+64del	NP_001366127.1:n.1289+61_1289+64del