Canonical Allele Identifier: CA2685364742

Gene: KEL

Linked Data

• gnomAD v4: 7-142958068-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958068T>C , CM000669.2:g.142958068T>C	GRCh38
NC_000007.13:g.142655155T>C , CM000669.1:g.142655155T>C	GRCh37
NC_000007.12:g.142365277T>C	NCBI36
NG_007492.1:g.9349A>G
NG_007492.2:g.9349A>G
NG_007492.3:g.9349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-95A>G MANE Select	ENSP00000347409.2:n.526-95A>G
ENST00000467543.6:c.*378-95A>G	ENSP00000420011.2:n.*378-95A>G
ENST00000355265.6:c.526-95A>G	ENSP00000347409.2:n.526-95A>G
ENST00000467543.5:c.469-95A>G	ENSP00000420011.1:n.469-95A>G
ENST00000476829.5:c.525+236A>G	ENSP00000419889.1:n.525+236A>G
ENST00000479768.6:n.644-95A>G
ENST00000494148.1:n.125-95A>G
NM_000420.2:c.526-95A>G	NP_000411.1:n.526-95A>G
XM_005249993.2:c.562-95A>G	XP_005250050.1:n.562-95A>G
NM_000420.3:c.526-95A>G MANE Select	NP_000411.1:n.526-95A>G