Canonical Allele Identifier: CA2580763198

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958010C>A , CM000669.2:g.142958010C>A	GRCh38
NC_000007.13:g.142655097C>A , CM000669.1:g.142655097C>A	GRCh37
NC_000007.12:g.142365219C>A	NCBI36
NG_007492.1:g.9407G>T
NG_007492.2:g.9407G>T
NG_007492.3:g.9407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-37G>T MANE Select	ENSP00000347409.2:n.526-37G>T
ENST00000467543.6:c.*378-37G>T	ENSP00000420011.2:n.*378-37G>T
ENST00000355265.6:c.526-37G>T	ENSP00000347409.2:n.526-37G>T
ENST00000467543.5:c.469-37G>T	ENSP00000420011.1:n.469-37G>T
ENST00000476829.5:c.525+294G>T	ENSP00000419889.1:n.525+294G>T
ENST00000479768.6:n.644-37G>T
ENST00000494148.1:n.125-37G>T
NM_000420.2:c.526-37G>T	NP_000411.1:n.526-37G>T
XM_005249993.2:c.562-37G>T	XP_005250050.1:n.562-37G>T
NM_000420.3:c.526-37G>T MANE Select	NP_000411.1:n.526-37G>T