Allele Registry

Canonical Allele Identifier: CA127379

Gene: SLC4A1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44251435_44251436insCATCTGGGTG

GRCh37 chr17:g.42328803_42328804insCATCTGGGTG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000019335

ClinVar Variation:

17758

dbSNP:

387906566

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44251436_44251445dup , CM000679.2:g.44251436_44251445dup	GRCh38
NC_000017.10:g.42328804_42328813dup , CM000679.1:g.42328804_42328813dup	GRCh37
NC_000017.9:g.39684330_39684339dup	NCBI36
NG_007498.1:g.21690_21699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2455_2464dup MANE Select	ENSP00000262418.6:p.Val822AlafsTer?
ENST00000262418.10:c.2455_2464dup	ENSP00000262418.6:p.Val822AlafsTer?
ENST00000399246.3:c.1357_1366dup	ENSP00000382190.3:p.Val456AlafsTer?
NM_000342.3:c.2455_2464dup	NP_000333.1:p.Val822AlafsTer?
XM_005257593.3:c.2260_2269dup	XP_005257650.1:p.Val757AlafsTer?
XM_011525129.1:c.2365_2374dup	XP_011523431.1:p.Val792AlafsTer?
XM_005257593.5:c.2260_2269dup	XP_005257650.1:p.Val757AlafsTer?
XM_011525129.2:c.2365_2374dup	XP_011523431.1:p.Val792AlafsTer?
NM_000342.4:c.2455_2464dup MANE Select	NP_000333.1:p.Val822AlafsTer?

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