Canonical Allele Identifier: CA2685364684

Gene: KEL

Linked Data

• gnomAD v4: 7-142957892-GGCCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957893_142957897del , CM000669.2:g.142957893_142957897del	GRCh38
NC_000007.13:g.142654980_142654984del , CM000669.1:g.142654980_142654984del	GRCh37
NC_000007.12:g.142365102_142365106del	NCBI36
NG_007492.1:g.9520_9524del
NG_007492.2:g.9520_9524del
NG_007492.3:g.9520_9524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.602_606del MANE Select	ENSP00000347409.2:p.Tyr201SerfsTer29
ENST00000467543.6:c.*454_*458del	ENSP00000420011.2:n.*454_*458del
ENST00000355265.6:c.602_606del	ENSP00000347409.2:p.Tyr201SerfsTer29
ENST00000467543.5:c.545_549del	ENSP00000420011.1:p.Tyr182SerfsTer?
ENST00000476829.5:c.525+407_525+411del	ENSP00000419889.1:n.525+407_525+411del
ENST00000479768.6:n.720_724del
ENST00000494148.1:n.201_205del
NM_000420.2:c.602_606del	NP_000411.1:p.Tyr201SerfsTer29
XM_005249993.2:c.638_642del	XP_005250050.1:p.Tyr213SerfsTer29
NM_000420.3:c.602_606del MANE Select	NP_000411.1:p.Tyr201SerfsTer29