Canonical Allele Identifier: CA2685364766

Gene: KEL

Linked Data

• gnomAD v4: 7-142958092-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958093del , CM000669.2:g.142958093del	GRCh38
NC_000007.13:g.142655180del , CM000669.1:g.142655180del	GRCh37
NC_000007.12:g.142365302del	NCBI36
NG_007492.1:g.9324del
NG_007492.2:g.9324del
NG_007492.3:g.9324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-120del MANE Select	ENSP00000347409.2:n.526-120del
ENST00000467543.6:c.*378-120del	ENSP00000420011.2:n.*378-120del
ENST00000355265.6:c.526-120del	ENSP00000347409.2:n.526-120del
ENST00000467543.5:c.469-120del	ENSP00000420011.1:n.469-120del
ENST00000476829.5:c.525+211del	ENSP00000419889.1:n.525+211del
ENST00000479768.6:n.644-120del
ENST00000494148.1:n.125-120del
NM_000420.2:c.526-120del	NP_000411.1:n.526-120del
XM_005249993.2:c.562-120del	XP_005250050.1:n.562-120del
NM_000420.3:c.526-120del MANE Select	NP_000411.1:n.526-120del