Canonical Allele Identifier: CA2697559956

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2690711
• ClinVar RCV Id: RCV003489431

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254638del , CM000679.2:g.44254638del	GRCh38
NC_000017.10:g.42332006del , CM000679.1:g.42332006del	GRCh37
NC_000017.9:g.39687532del	NCBI36
NG_007498.1:g.18498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1916del MANE Select	ENSP00000262418.6:p.Lys639ArgfsTer25
ENST00000262418.10:c.1916del	ENSP00000262418.6:p.Lys639ArgfsTer25
ENST00000399246.3:c.818del	ENSP00000382190.3:p.Lys273ArgfsTer25
NM_000342.3:c.1916del	NP_000333.1:p.Lys639ArgfsTer25
XM_005257593.3:c.1721del	XP_005257650.1:p.Lys574ArgfsTer25
XM_011525129.1:c.1826del	XP_011523431.1:p.Lys609ArgfsTer25
XM_011525130.1:c.1916del	XP_011523432.1:p.Lys639ArgfsTer25
XM_011525131.1:c.1916del	XP_011523433.1:p.Lys639ArgfsTer25
XM_005257593.5:c.1721del	XP_005257650.1:p.Lys574ArgfsTer25
XM_011525129.2:c.1826del	XP_011523431.1:p.Lys609ArgfsTer25
NM_000342.4:c.1916del MANE Select	NP_000333.1:p.Lys639ArgfsTer25