Canonical Allele Identifier: CA2739267570

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2810623
• ClinVar RCV Id: RCV003682525

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254580_44254586del , CM000679.2:g.44254580_44254586del	GRCh38
NC_000017.10:g.42331948_42331954del , CM000679.1:g.42331948_42331954del	GRCh37
NC_000017.9:g.39687474_39687480del	NCBI36
NG_007498.1:g.18552_18558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1970_1976del MANE Select	ENSP00000262418.6:p.Ser657PhefsTer5
ENST00000262418.10:c.1970_1976del	ENSP00000262418.6:p.Ser657PhefsTer5
ENST00000399246.3:c.872_878del	ENSP00000382190.3:p.Ser291PhefsTer5
NM_000342.3:c.1970_1976del	NP_000333.1:p.Ser657PhefsTer5
XM_005257593.3:c.1775_1781del	XP_005257650.1:p.Ser592PhefsTer5
XM_011525129.1:c.1880_1886del	XP_011523431.1:p.Ser627PhefsTer5
XM_011525130.1:c.1970_1976del	XP_011523432.1:p.Ser657PhefsTer5
XM_011525131.1:c.1970_1976del	XP_011523433.1:p.Ser657PhefsTer5
XM_005257593.5:c.1775_1781del	XP_005257650.1:p.Ser592PhefsTer5
XM_011525129.2:c.1880_1886del	XP_011523431.1:p.Ser627PhefsTer5
NM_000342.4:c.1970_1976del MANE Select	NP_000333.1:p.Ser657PhefsTer5