Canonical Allele Identifier: CA2580093861

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2135727
• ClinVar RCV Id: RCV003048767

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254596del , CM000679.2:g.44254596del	GRCh38
NC_000017.10:g.42331964del , CM000679.1:g.42331964del	GRCh37
NC_000017.9:g.39687490del	NCBI36
NG_007498.1:g.18539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1957del MANE Select	ENSP00000262418.6:p.Leu653TrpfsTer11
ENST00000262418.10:c.1957del	ENSP00000262418.6:p.Leu653TrpfsTer11
ENST00000399246.3:c.859del	ENSP00000382190.3:p.Leu287TrpfsTer11
NM_000342.3:c.1957del	NP_000333.1:p.Leu653TrpfsTer11
XM_005257593.3:c.1762del	XP_005257650.1:p.Leu588TrpfsTer11
XM_011525129.1:c.1867del	XP_011523431.1:p.Leu623TrpfsTer11
XM_011525130.1:c.1957del	XP_011523432.1:p.Leu653TrpfsTer11
XM_011525131.1:c.1957del	XP_011523433.1:p.Leu653TrpfsTer11
XM_005257593.5:c.1762del	XP_005257650.1:p.Leu588TrpfsTer11
XM_011525129.2:c.1867del	XP_011523431.1:p.Leu623TrpfsTer11
NM_000342.4:c.1957del MANE Select	NP_000333.1:p.Leu653TrpfsTer11