Canonical Allele Identifier: CA2685364688

Gene: KEL

Linked Data

• gnomAD v4: 7-142957975-TTTAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957976_142957981del , CM000669.2:g.142957976_142957981del	GRCh38
NC_000007.13:g.142655063_142655068del , CM000669.1:g.142655063_142655068del	GRCh37
NC_000007.12:g.142365185_142365190del	NCBI36
NG_007492.1:g.9436_9441del
NG_007492.2:g.9436_9441del
NG_007492.3:g.9436_9441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-8_526-3del MANE Select	ENSP00000347409.2:n.526-8_526-3del
ENST00000467543.6:c.*378-8_*378-3del	ENSP00000420011.2:n.*378-8_*378-3del
ENST00000355265.6:c.526-8_526-3del	ENSP00000347409.2:n.526-8_526-3del
ENST00000467543.5:c.469-8_469-3del	ENSP00000420011.1:n.469-8_469-3del
ENST00000476829.5:c.525+323_525+328del	ENSP00000419889.1:n.525+323_525+328del
ENST00000479768.6:n.644-8_644-3del
ENST00000494148.1:n.125-8_125-3del
NM_000420.2:c.526-8_526-3del	NP_000411.1:n.526-8_526-3del
XM_005249993.2:c.562-8_562-3del	XP_005250050.1:n.562-8_562-3del
NM_000420.3:c.526-8_526-3del MANE Select	NP_000411.1:n.526-8_526-3del