Canonical Allele Identifier: CA2697559955

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2690714
• ClinVar RCV Id: RCV003489434

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254578_44254585del , CM000679.2:g.44254578_44254585del	GRCh38
NC_000017.10:g.42331946_42331953del , CM000679.1:g.42331946_42331953del	GRCh37
NC_000017.9:g.39687472_39687479del	NCBI36
NG_007498.1:g.18554_18561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1972_1979del MANE Select	ENSP00000262418.6:p.Glu658HisfsTer?
ENST00000262418.10:c.1972_1979del	ENSP00000262418.6:p.Glu658HisfsTer?
ENST00000399246.3:c.874_881del	ENSP00000382190.3:p.Glu292HisfsTer?
NM_000342.3:c.1972_1979del	NP_000333.1:p.Glu658HisfsTer?
XM_005257593.3:c.1777_1784del	XP_005257650.1:p.Glu593HisfsTer?
XM_011525129.1:c.1882_1889del	XP_011523431.1:p.Glu628HisfsTer?
XM_011525130.1:c.1972_1979del	XP_011523432.1:p.Glu658HisfsTer?
XM_011525131.1:c.1972_1979del	XP_011523433.1:p.Glu658HisfsTer?
XM_005257593.5:c.1777_1784del	XP_005257650.1:p.Glu593HisfsTer?
XM_011525129.2:c.1882_1889del	XP_011523431.1:p.Glu628HisfsTer?
NM_000342.4:c.1972_1979del MANE Select	NP_000333.1:p.Glu658HisfsTer?