Canonical Allele Identifier: CA578626569

Gene: KEL

Linked Data

• dbSNP Id: rs1283653922
• gnomAD v2: 7-142655068-GGA-G
• gnomAD v3: 7-142957981-GGA-G
• gnomAD v4: 7-142957981-GGA-G
• MyVariant Identifiers: chr7:g.142655069_142655070del (hg19) ; chr7:g.142957982_142957983del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957989_142957990del , CM000669.2:g.142957989_142957990del	GRCh38
NC_000007.13:g.142655076_142655077del , CM000669.1:g.142655076_142655077del	GRCh37
NC_000007.12:g.142365198_142365199del	NCBI36
NG_007492.1:g.9434_9435del
NG_007492.2:g.9434_9435del
NG_007492.3:g.9434_9435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-10_526-9del MANE Select	ENSP00000347409.2:n.526-10_526-9del
ENST00000467543.6:c.*378-10_*378-9del	ENSP00000420011.2:n.*378-10_*378-9del
ENST00000355265.6:c.526-10_526-9del	ENSP00000347409.2:n.526-10_526-9del
ENST00000467543.5:c.469-10_469-9del	ENSP00000420011.1:n.469-10_469-9del
ENST00000476829.5:c.525+321_525+322del	ENSP00000419889.1:n.525+321_525+322del
ENST00000479768.6:n.644-10_644-9del
ENST00000494148.1:n.125-10_125-9del
NM_000420.2:c.526-10_526-9del	NP_000411.1:n.526-10_526-9del
XM_005249993.2:c.562-10_562-9del	XP_005250050.1:n.562-10_562-9del
NM_000420.3:c.526-10_526-9del MANE Select	NP_000411.1:n.526-10_526-9del