Canonical Allele Identifier: CA168203820

Gene: KEL

Linked Data

• dbSNP Id: rs896969446
• gnomAD v3: 7-142958191-T-TG
• gnomAD v4: 7-142958191-T-TG
• MyVariant Identifiers: chr7:g.142655278_142655279insG (hg19) ; chr7:g.142958191_142958192insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958197dup , CM000669.2:g.142958197dup	GRCh38
NC_000007.13:g.142655284dup , CM000669.1:g.142655284dup	GRCh37
NC_000007.12:g.142365406dup	NCBI36
NG_007492.1:g.9225dup
NG_007492.2:g.9225dup
NG_007492.3:g.9225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+112dup MANE Select	ENSP00000347409.2:n.525+112dup
ENST00000467543.6:c.*377+112dup	ENSP00000420011.2:n.*377+112dup
ENST00000355265.6:c.525+112dup	ENSP00000347409.2:n.525+112dup
ENST00000467543.5:c.468+112dup	ENSP00000420011.1:n.468+112dup
ENST00000476829.5:c.525+112dup	ENSP00000419889.1:n.525+112dup
ENST00000479768.6:n.643+112dup
ENST00000494148.1:n.124+112dup
NM_000420.2:c.525+112dup	NP_000411.1:n.525+112dup
XM_005249993.2:c.561+112dup	XP_005250050.1:n.561+112dup
NM_000420.3:c.525+112dup MANE Select	NP_000411.1:n.525+112dup