Canonical Allele Identifier: CA2778220886
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958067_142958077del , CM000669.2:g.142958067_142958077del GRCh38
NC_000007.13:g.142655154_142655164del , CM000669.1:g.142655154_142655164del GRCh37
NC_000007.12:g.142365276_142365286del NCBI36
NG_007492.1:g.9341_9351del
NG_007492.2:g.9341_9351del
NG_007492.3:g.9341_9351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-103_526-93del MANE Select ENSP00000347409.2:n.526-103_526-93del
ENST00000467543.6:c.*378-103_*378-93del ENSP00000420011.2:n.*378-103_*378-93del
ENST00000355265.6:c.526-103_526-93del ENSP00000347409.2:n.526-103_526-93del
ENST00000467543.5:c.469-103_469-93del ENSP00000420011.1:n.469-103_469-93del
ENST00000476829.5:c.525+228_525+238del ENSP00000419889.1:n.525+228_525+238del
ENST00000479768.6:n.644-103_644-93del
ENST00000494148.1:n.125-103_125-93del
NM_000420.2:c.526-103_526-93del NP_000411.1:n.526-103_526-93del
XM_005249993.2:c.562-103_562-93del XP_005250050.1:n.562-103_562-93del
NM_000420.3:c.526-103_526-93del MANE Select NP_000411.1:n.526-103_526-93del