Canonical Allele Identifier: CA10645973

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 1239059
• ClinVar RCV Id: RCV001639990
• dbSNP Id: rs141752007
• gnomAD v2: 17-44269836-CAAGAG-C
• gnomAD v3: 17-46192470-CAAGAG-C
• gnomAD v4: 17-46192470-CAAGAG-C
• MyVariant Identifiers: chr17:g.44269837_44269841del (hg19) ; chr17:g.46192471_46192475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46192474_46192478del , CM000679.2:g.46192474_46192478del	GRCh38
NC_000017.10:g.44269840_44269844del , CM000679.1:g.44269840_44269844del	GRCh37
NC_000017.9:g.41625617_41625621del	NCBI36
NG_032784.1:g.37900_37904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.-90+348_-90+352del MANE Select	ENSP00000387393.3:n.-90+348_-90+352del
ENST00000571698.2:c.-90+1275_-90+1279del	ENSP00000459330.2:n.-90+1275_-90+1279del
ENST00000572904.6:c.-89-20243_-89-20239del	ENSP00000461484.1:n.-89-20243_-89-20239del
ENST00000574590.6:c.-89-20243_-89-20239del	ENSP00000461812.2:n.-89-20243_-89-20239del
ENST00000574655.6:n.166-20243_166-20239del
ENST00000575318.6:c.-89-20243_-89-20239del	ENSP00000461299.1:n.-89-20243_-89-20239del
ENST00000576739.2:c.-89-20243_-89-20239del	ENSP00000459627.1:n.-89-20243_-89-20239del
ENST00000638269.1:n.156-20243_156-20239del
ENST00000638275.1:c.-90+348_-90+352del	ENSP00000492576.1:n.-90+348_-90+352del
ENST00000638902.1:n.16-20243_16-20239del
ENST00000639099.1:n.162-20243_162-20239del
ENST00000639150.1:c.23+31196_23+31200del	ENSP00000491906.1:n.23+31196_23+31200del
ENST00000639356.1:n.162-20243_162-20239del
ENST00000639375.1:n.150-20243_150-20239del
ENST00000648792.1:c.-89-20243_-89-20239del	ENSP00000497628.1:n.-89-20243_-89-20239del
ENST00000262419.10:c.-146_-142del	ENSP00000262419.6:n.-146_-142del
ENST00000432791.5:c.-89-20243_-89-20239del	ENSP00000387393.2:n.-89-20243_-89-20239del
ENST00000571698.1:c.-90+1275_-90+1279del	ENSP00000459330.1:n.-90+1275_-90+1279del
ENST00000572904.5:c.-90+348_-90+352del	ENSP00000461484.1:n.-90+348_-90+352del
ENST00000574590.5:c.-89-20243_-89-20239del	ENSP00000461812.1:n.-89-20243_-89-20239del
ENST00000574655.5:c.-89-20243_-89-20239del	ENSP00000459359.1:n.-89-20243_-89-20239del
ENST00000576739.1:c.-89-20243_-89-20239del	ENSP00000459627.1:n.-89-20243_-89-20239del
NM_001193465.1:c.-89-20243_-89-20239del	NP_001180394.1:n.-89-20243_-89-20239del
NM_001193466.1:c.-146_-142del	NP_001180395.1:n.-146_-142del
NM_015443.3:c.-90+348_-90+352del	NP_056258.1:n.-90+348_-90+352del
XM_006721823.1:c.-89-20243_-89-20239del	XP_006721886.1:n.-89-20243_-89-20239del
XM_006721824.2:c.-89-20243_-89-20239del	XP_006721887.1:n.-89-20243_-89-20239del
XM_011524628.1:c.-89-20243_-89-20239del	XP_011522930.1:n.-89-20243_-89-20239del
XM_011524629.1:c.-89-20243_-89-20239del	XP_011522931.1:n.-89-20243_-89-20239del
XM_011524630.1:c.-89-20243_-89-20239del	XP_011522932.1:n.-89-20243_-89-20239del
XM_011524631.1:c.-89-20243_-89-20239del	XP_011522933.1:n.-89-20243_-89-20239del
XM_006721823.2:c.-89-20243_-89-20239del	XP_006721886.1:n.-89-20243_-89-20239del
XM_006721824.4:c.-89-20243_-89-20239del	XP_006721887.1:n.-89-20243_-89-20239del
XM_011524628.3:c.-89-20243_-89-20239del	XP_011522930.1:n.-89-20243_-89-20239del
XM_011524629.3:c.-89-20243_-89-20239del	XP_011522931.1:n.-89-20243_-89-20239del
XM_011524630.3:c.-89-20243_-89-20239del	XP_011522932.1:n.-89-20243_-89-20239del
XM_011524631.3:c.-89-20243_-89-20239del	XP_011522933.1:n.-89-20243_-89-20239del
XM_017024488.2:c.-89-20243_-89-20239del	XP_016879977.1:n.-89-20243_-89-20239del
XM_017024489.1:c.-90+348_-90+352del	XP_016879978.1:n.-90+348_-90+352del
NM_001193466.2:c.-146_-142del	NP_001180395.1:n.-146_-142del
NM_015443.4:c.-90+348_-90+352del MANE Select	NP_056258.1:n.-90+348_-90+352del
NM_001193465.2:c.-89-20243_-89-20239del	NP_001180394.1:n.-89-20243_-89-20239del
NM_001379198.1:c.-89-20243_-89-20239del	NP_001366127.1:n.-89-20243_-89-20239del