Canonical Allele Identifier: CA4534557

Gene: KEL

Linked Data

• dbSNP Id: rs772181898
• ExAC: 7:142655076 AGG / A
• gnomAD v4: 7-142957989-AGG-A
• MyVariant Identifiers: chr7:g.142655077_142655078del (hg19) ; chr7:g.142957990_142957991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957993_142957994del , CM000669.2:g.142957993_142957994del	GRCh38
NC_000007.13:g.142655080_142655081del , CM000669.1:g.142655080_142655081del	GRCh37
NC_000007.12:g.142365202_142365203del	NCBI36
NG_007492.1:g.9426_9427del
NG_007492.2:g.9426_9427del
NG_007492.3:g.9426_9427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-18_526-17del MANE Select	ENSP00000347409.2:n.526-18_526-17del
ENST00000467543.6:c.*378-18_*378-17del	ENSP00000420011.2:n.*378-18_*378-17del
ENST00000355265.6:c.526-18_526-17del	ENSP00000347409.2:n.526-18_526-17del
ENST00000467543.5:c.469-18_469-17del	ENSP00000420011.1:n.469-18_469-17del
ENST00000476829.5:c.525+313_525+314del	ENSP00000419889.1:n.525+313_525+314del
ENST00000479768.6:n.644-18_644-17del
ENST00000494148.1:n.125-18_125-17del
NM_000420.2:c.526-18_526-17del	NP_000411.1:n.526-18_526-17del
XM_005249993.2:c.562-18_562-17del	XP_005250050.1:n.562-18_562-17del
NM_000420.3:c.526-18_526-17del MANE Select	NP_000411.1:n.526-18_526-17del