Canonical Allele Identifier: CA2685364771

Gene: KEL

Linked Data

• gnomAD v4: 7-142958100-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958100C>G , CM000669.2:g.142958100C>G	GRCh38
NC_000007.13:g.142655187C>G , CM000669.1:g.142655187C>G	GRCh37
NC_000007.12:g.142365309C>G	NCBI36
NG_007492.1:g.9317G>C
NG_007492.2:g.9317G>C
NG_007492.3:g.9317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-127G>C MANE Select	ENSP00000347409.2:n.526-127G>C
ENST00000467543.6:c.*378-127G>C	ENSP00000420011.2:n.*378-127G>C
ENST00000355265.6:c.526-127G>C	ENSP00000347409.2:n.526-127G>C
ENST00000467543.5:c.469-127G>C	ENSP00000420011.1:n.469-127G>C
ENST00000476829.5:c.525+204G>C	ENSP00000419889.1:n.525+204G>C
ENST00000479768.6:n.644-127G>C
ENST00000494148.1:n.125-127G>C
NM_000420.2:c.526-127G>C	NP_000411.1:n.526-127G>C
XM_005249993.2:c.562-127G>C	XP_005250050.1:n.562-127G>C
NM_000420.3:c.526-127G>C MANE Select	NP_000411.1:n.526-127G>C