Canonical Allele Identifier: CA2685364816

Gene: KEL

Linked Data

• gnomAD v4: 7-142958183-CTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958184_142958186del , CM000669.2:g.142958184_142958186del	GRCh38
NC_000007.13:g.142655271_142655273del , CM000669.1:g.142655271_142655273del	GRCh37
NC_000007.12:g.142365393_142365395del	NCBI36
NG_007492.1:g.9231_9233del
NG_007492.2:g.9231_9233del
NG_007492.3:g.9231_9233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+118_525+120del MANE Select	ENSP00000347409.2:n.525+118_525+120del
ENST00000467543.6:c.*377+118_*377+120del	ENSP00000420011.2:n.*377+118_*377+120del
ENST00000355265.6:c.525+118_525+120del	ENSP00000347409.2:n.525+118_525+120del
ENST00000467543.5:c.468+118_468+120del	ENSP00000420011.1:n.468+118_468+120del
ENST00000476829.5:c.525+118_525+120del	ENSP00000419889.1:n.525+118_525+120del
ENST00000479768.6:n.643+118_643+120del
ENST00000494148.1:n.124+118_124+120del
NM_000420.2:c.525+118_525+120del	NP_000411.1:n.525+118_525+120del
XM_005249993.2:c.561+118_561+120del	XP_005250050.1:n.561+118_561+120del
NM_000420.3:c.525+118_525+120del MANE Select	NP_000411.1:n.525+118_525+120del