Canonical Allele Identifier: CA2685364786

Gene: KEL

Linked Data

• gnomAD v4: 7-142958117-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958118dup , CM000669.2:g.142958118dup	GRCh38
NC_000007.13:g.142655205dup , CM000669.1:g.142655205dup	GRCh37
NC_000007.12:g.142365327dup	NCBI36
NG_007492.1:g.9299dup
NG_007492.2:g.9299dup
NG_007492.3:g.9299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-145dup MANE Select	ENSP00000347409.2:n.526-145dup
ENST00000467543.6:c.*378-145dup	ENSP00000420011.2:n.*378-145dup
ENST00000355265.6:c.526-145dup	ENSP00000347409.2:n.526-145dup
ENST00000467543.5:c.469-145dup	ENSP00000420011.1:n.469-145dup
ENST00000476829.5:c.525+186dup	ENSP00000419889.1:n.525+186dup
ENST00000479768.6:n.644-145dup
ENST00000494148.1:n.125-145dup
NM_000420.2:c.526-145dup	NP_000411.1:n.526-145dup
XM_005249993.2:c.562-145dup	XP_005250050.1:n.562-145dup
NM_000420.3:c.526-145dup MANE Select	NP_000411.1:n.526-145dup