Canonical Allele Identifier: CA2580093863

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2433553
• ClinVar RCV Id: RCV003131520

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254662dup , CM000679.2:g.44254662dup	GRCh38
NC_000017.10:g.42332030dup , CM000679.1:g.42332030dup	GRCh37
NC_000017.9:g.39687556dup	NCBI36
NG_007498.1:g.18475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1893dup MANE Select	ENSP00000262418.6:p.Leu632ThrfsTer5
ENST00000262418.10:c.1893dup	ENSP00000262418.6:p.Leu632ThrfsTer5
ENST00000399246.3:c.795dup	ENSP00000382190.3:p.Leu266ThrfsTer5
NM_000342.3:c.1893dup	NP_000333.1:p.Leu632ThrfsTer5
XM_005257593.3:c.1698dup	XP_005257650.1:p.Leu567ThrfsTer5
XM_011525129.1:c.1803dup	XP_011523431.1:p.Leu602ThrfsTer5
XM_011525130.1:c.1893dup	XP_011523432.1:p.Leu632ThrfsTer5
XM_011525131.1:c.1893dup	XP_011523433.1:p.Leu632ThrfsTer5
XM_005257593.5:c.1698dup	XP_005257650.1:p.Leu567ThrfsTer5
XM_011525129.2:c.1803dup	XP_011523431.1:p.Leu602ThrfsTer5
NM_000342.4:c.1893dup MANE Select	NP_000333.1:p.Leu632ThrfsTer5