Canonical Allele Identifier: CA2685364681

Gene: KEL

Linked Data

• gnomAD v4: 7-142957818-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957818A>C , CM000669.2:g.142957818A>C	GRCh38
NC_000007.13:g.142654905A>C , CM000669.1:g.142654905A>C	GRCh37
NC_000007.12:g.142365027A>C	NCBI36
NG_007492.1:g.9599T>G
NG_007492.2:g.9599T>G
NG_007492.3:g.9599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.672+9T>G MANE Select	ENSP00000347409.2:n.672+9T>G
ENST00000355265.6:c.672+9T>G	ENSP00000347409.2:n.672+9T>G
ENST00000476829.5:c.525+486T>G	ENSP00000419889.1:n.525+486T>G
ENST00000479768.6:n.790+9T>G
ENST00000494148.1:n.271+9T>G
NM_000420.2:c.672+9T>G	NP_000411.1:n.672+9T>G
XM_005249993.2:c.708+9T>G	XP_005250050.1:n.708+9T>G
NM_000420.3:c.672+9T>G MANE Select	NP_000411.1:n.672+9T>G