Canonical Allele Identifier: CA2685364788

Gene: KEL

Linked Data

• gnomAD v4: 7-142958120-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958120C>A , CM000669.2:g.142958120C>A	GRCh38
NC_000007.13:g.142655207C>A , CM000669.1:g.142655207C>A	GRCh37
NC_000007.12:g.142365329C>A	NCBI36
NG_007492.1:g.9297G>T
NG_007492.2:g.9297G>T
NG_007492.3:g.9297G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-147G>T MANE Select	ENSP00000347409.2:n.526-147G>T
ENST00000467543.6:c.*378-147G>T	ENSP00000420011.2:n.*378-147G>T
ENST00000355265.6:c.526-147G>T	ENSP00000347409.2:n.526-147G>T
ENST00000467543.5:c.469-147G>T	ENSP00000420011.1:n.469-147G>T
ENST00000476829.5:c.525+184G>T	ENSP00000419889.1:n.525+184G>T
ENST00000479768.6:n.644-147G>T
ENST00000494148.1:n.125-147G>T
NM_000420.2:c.526-147G>T	NP_000411.1:n.526-147G>T
XM_005249993.2:c.562-147G>T	XP_005250050.1:n.562-147G>T
NM_000420.3:c.526-147G>T MANE Select	NP_000411.1:n.526-147G>T