Canonical Allele Identifier: CA2685364732

Gene: KEL

Linked Data

• gnomAD v4: 7-142958057-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958057A>G , CM000669.2:g.142958057A>G	GRCh38
NC_000007.13:g.142655144A>G , CM000669.1:g.142655144A>G	GRCh37
NC_000007.12:g.142365266A>G	NCBI36
NG_007492.1:g.9360T>C
NG_007492.2:g.9360T>C
NG_007492.3:g.9360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-84T>C MANE Select	ENSP00000347409.2:n.526-84T>C
ENST00000467543.6:c.*378-84T>C	ENSP00000420011.2:n.*378-84T>C
ENST00000355265.6:c.526-84T>C	ENSP00000347409.2:n.526-84T>C
ENST00000467543.5:c.469-84T>C	ENSP00000420011.1:n.469-84T>C
ENST00000476829.5:c.525+247T>C	ENSP00000419889.1:n.525+247T>C
ENST00000479768.6:n.644-84T>C
ENST00000494148.1:n.125-84T>C
NM_000420.2:c.526-84T>C	NP_000411.1:n.526-84T>C
XM_005249993.2:c.562-84T>C	XP_005250050.1:n.562-84T>C
NM_000420.3:c.526-84T>C MANE Select	NP_000411.1:n.526-84T>C