Canonical Allele Identifier: CA8618307

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 323760
• ClinVar RCV Id: RCV000274812 ; RCV000303994 ; RCV001549895
• dbSNP Id: rs373668834
• ExAC: 17:44108804 CAATA / C
• gnomAD v2: 17-44108804-CAATA-C
• gnomAD v3: 17-46031438-CAATA-C
• gnomAD v4: 17-46031438-CAATA-C
• MyVariant Identifiers: chr17:g.44108805_44108808del (hg19) ; chr17:g.46031439_46031442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031439_46031442del , CM000679.2:g.46031439_46031442del	GRCh38
NC_000017.10:g.44108805_44108808del , CM000679.1:g.44108805_44108808del	GRCh37
NC_000017.9:g.41464652_41464655del	NCBI36
NG_032784.1:g.198933_198936del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.*34_*37del MANE Select	ENSP00000387393.3:n.*34_*37del
ENST00000572904.6:c.*34_*37del	ENSP00000461484.1:n.*34_*37del
ENST00000574590.6:c.*34_*37del	ENSP00000461812.2:n.*34_*37del
ENST00000575318.6:c.*34_*37del	ENSP00000461299.1:n.*34_*37del
ENST00000638275.1:c.*34_*37del	ENSP00000492576.1:n.*34_*37del
ENST00000648792.1:c.*34_*37del	ENSP00000497628.1:n.*34_*37del
ENST00000262419.10:c.*34_*37del	ENSP00000262419.6:n.*34_*37del
ENST00000432791.5:c.*34_*37del	ENSP00000387393.2:n.*34_*37del
ENST00000572218.5:n.7569_7572del
ENST00000572904.5:c.*34_*37del	ENSP00000461484.1:n.*34_*37del
ENST00000574590.5:c.*34_*37del	ENSP00000461812.1:n.*34_*37del
ENST00000574963.1:n.1125_1128del
ENST00000575318.5:c.*34_*37del	ENSP00000461299.1:n.*34_*37del
ENST00000576870.5:n.1324_1327del
NM_001193465.1:c.*34_*37del	NP_001180394.1:n.*34_*37del
NM_001193466.1:c.*34_*37del	NP_001180395.1:n.*34_*37del
NM_015443.3:c.*34_*37del	NP_056258.1:n.*34_*37del
XM_006721823.1:c.*34_*37del	XP_006721886.1:n.*34_*37del
XM_006721824.2:c.*34_*37del	XP_006721887.1:n.*34_*37del
XM_011524628.1:c.*34_*37del	XP_011522930.1:n.*34_*37del
XM_011524629.1:c.*34_*37del	XP_011522931.1:n.*34_*37del
XM_011524630.1:c.*34_*37del	XP_011522932.1:n.*34_*37del
XM_011524631.1:c.*34_*37del	XP_011522933.1:n.*34_*37del
XM_011524632.1:c.*34_*37del	XP_011522934.1:n.*34_*37del
XM_006721823.2:c.*34_*37del	XP_006721886.1:n.*34_*37del
XM_006721824.4:c.*34_*37del	XP_006721887.1:n.*34_*37del
XM_011524628.3:c.*34_*37del	XP_011522930.1:n.*34_*37del
XM_011524629.3:c.*34_*37del	XP_011522931.1:n.*34_*37del
XM_011524630.3:c.*34_*37del	XP_011522932.1:n.*34_*37del
XM_011524631.3:c.*34_*37del	XP_011522933.1:n.*34_*37del
XM_011524632.3:c.*34_*37del	XP_011522934.1:n.*34_*37del
XM_017024488.2:c.*34_*37del	XP_016879977.1:n.*34_*37del
NM_001193466.2:c.*34_*37del	NP_001180395.1:n.*34_*37del
NM_015443.4:c.*34_*37del MANE Select	NP_056258.1:n.*34_*37del
NM_001193465.2:c.*34_*37del	NP_001180394.1:n.*34_*37del
NM_001379198.1:c.*34_*37del	NP_001366127.1:n.*34_*37del