Allele Registry

Canonical Allele Identifier: CA16043121

Gene: SLC4A1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44259839_44259849del

GRCh37 chr17:g.42337207_42337217del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000413863

ClinVar Variation:

373108

dbSNP:

1057518222

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259843_44259853del , CM000679.2:g.44259843_44259853del	GRCh38
NC_000017.10:g.42337211_42337221del , CM000679.1:g.42337211_42337221del	GRCh37
NC_000017.9:g.39692737_39692747del	NCBI36
NG_007498.1:g.13286_13296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.569_579del MANE Select	ENSP00000262418.6:p.Pro190LeufsTer9
ENST00000262418.10:c.569_579del	ENSP00000262418.6:p.Pro190LeufsTer9
ENST00000399246.3:c.569_579del	ENSP00000382190.3:p.Pro190LeufsTer9
ENST00000497360.5:n.708_718del
NM_000342.3:c.569_579del	NP_000333.1:p.Pro190LeufsTer9
XM_005257593.3:c.374_384del	XP_005257650.1:p.Pro125LeufsTer9
XM_011525129.1:c.569_579del	XP_011523431.1:p.Pro190LeufsTer9
XM_011525130.1:c.569_579del	XP_011523432.1:p.Pro190LeufsTer9
XM_011525131.1:c.569_579del	XP_011523433.1:p.Pro190LeufsTer9
XM_005257593.5:c.374_384del	XP_005257650.1:p.Pro125LeufsTer9
XM_011525129.2:c.569_579del	XP_011523431.1:p.Pro190LeufsTer9
NM_000342.4:c.569_579del MANE Select	NP_000333.1:p.Pro190LeufsTer9

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