Canonical Allele Identifier: CA2685364799

Gene: KEL

Linked Data

• gnomAD v4: 7-142958157-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958159del , CM000669.2:g.142958159del	GRCh38
NC_000007.13:g.142655246del , CM000669.1:g.142655246del	GRCh37
NC_000007.12:g.142365368del	NCBI36
NG_007492.1:g.9259del
NG_007492.2:g.9259del
NG_007492.3:g.9259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+146del MANE Select	ENSP00000347409.2:n.525+146del
ENST00000467543.6:c.*377+146del	ENSP00000420011.2:n.*377+146del
ENST00000355265.6:c.525+146del	ENSP00000347409.2:n.525+146del
ENST00000467543.5:c.468+146del	ENSP00000420011.1:n.468+146del
ENST00000476829.5:c.525+146del	ENSP00000419889.1:n.525+146del
ENST00000479768.6:n.643+146del
ENST00000494148.1:n.124+146del
NM_000420.2:c.525+146del	NP_000411.1:n.525+146del
XM_005249993.2:c.561+146del	XP_005250050.1:n.561+146del
NM_000420.3:c.525+146del MANE Select	NP_000411.1:n.525+146del