Canonical Allele Identifier: CA2685364781

Gene: KEL

Linked Data

• gnomAD v4: 7-142958111-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958117dup , CM000669.2:g.142958117dup	GRCh38
NC_000007.13:g.142655204dup , CM000669.1:g.142655204dup	GRCh37
NC_000007.12:g.142365326dup	NCBI36
NG_007492.1:g.9305dup
NG_007492.2:g.9305dup
NG_007492.3:g.9305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-139dup MANE Select	ENSP00000347409.2:n.526-139dup
ENST00000467543.6:c.*378-139dup	ENSP00000420011.2:n.*378-139dup
ENST00000355265.6:c.526-139dup	ENSP00000347409.2:n.526-139dup
ENST00000467543.5:c.469-139dup	ENSP00000420011.1:n.469-139dup
ENST00000476829.5:c.525+192dup	ENSP00000419889.1:n.525+192dup
ENST00000479768.6:n.644-139dup
ENST00000494148.1:n.125-139dup
NM_000420.2:c.526-139dup	NP_000411.1:n.526-139dup
XM_005249993.2:c.562-139dup	XP_005250050.1:n.562-139dup
NM_000420.3:c.526-139dup MANE Select	NP_000411.1:n.526-139dup