Canonical Allele Identifier: CA2685364804

Gene: KEL

Linked Data

• gnomAD v4: 7-142958164-TTCCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958174_142958179del , CM000669.2:g.142958174_142958179del	GRCh38
NC_000007.13:g.142655261_142655266del , CM000669.1:g.142655261_142655266del	GRCh37
NC_000007.12:g.142365383_142365388del	NCBI36
NG_007492.1:g.9247_9252del
NG_007492.2:g.9247_9252del
NG_007492.3:g.9247_9252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+134_525+139del MANE Select	ENSP00000347409.2:n.525+134_525+139del
ENST00000467543.6:c.*377+134_*377+139del	ENSP00000420011.2:n.*377+134_*377+139del
ENST00000355265.6:c.525+134_525+139del	ENSP00000347409.2:n.525+134_525+139del
ENST00000467543.5:c.468+134_468+139del	ENSP00000420011.1:n.468+134_468+139del
ENST00000476829.5:c.525+134_525+139del	ENSP00000419889.1:n.525+134_525+139del
ENST00000479768.6:n.643+134_643+139del
ENST00000494148.1:n.124+134_124+139del
NM_000420.2:c.525+134_525+139del	NP_000411.1:n.525+134_525+139del
XM_005249993.2:c.561+134_561+139del	XP_005250050.1:n.561+134_561+139del
NM_000420.3:c.525+134_525+139del MANE Select	NP_000411.1:n.525+134_525+139del