Canonical Allele Identifier: CA2261308248

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254487_44254489delinsGTC , CM000679.2:g.44254487_44254489delinsGTC	GRCh38
NC_000017.10:g.42331855_42331857delinsGTC , CM000679.1:g.42331855_42331857delinsGTC	GRCh37
NC_000017.9:g.39687381_39687383delinsGTC	NCBI36
NG_007498.1:g.18646_18648delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+7_2057+9delinsGAC MANE Select	ENSP00000262418.6:n.2057+7_2057+9delinsGAC
ENST00000262418.10:c.2057+7_2057+9delinsGAC	ENSP00000262418.6:n.2057+7_2057+9delinsGAC
ENST00000399246.3:c.959+7_959+9delinsGAC	ENSP00000382190.3:n.959+7_959+9delinsGAC
NM_000342.3:c.2057+7_2057+9delinsGAC	NP_000333.1:n.2057+7_2057+9delinsGAC
XM_005257593.3:c.1862+7_1862+9delinsGAC	XP_005257650.1:n.1862+7_1862+9delinsGAC
XM_011525129.1:c.1967+7_1967+9delinsGAC	XP_011523431.1:n.1967+7_1967+9delinsGAC
XM_011525130.1:c.2057+7_2057+9delinsGAC	XP_011523432.1:n.2057+7_2057+9delinsGAC
XM_011525131.1:c.2057+7_2057+9delinsGAC	XP_011523433.1:n.2057+7_2057+9delinsGAC
XM_005257593.5:c.1862+7_1862+9delinsGAC	XP_005257650.1:n.1862+7_1862+9delinsGAC
XM_011525129.2:c.1967+7_1967+9delinsGAC	XP_011523431.1:n.1967+7_1967+9delinsGAC
NM_000342.4:c.2057+7_2057+9delinsGAC MANE Select	NP_000333.1:n.2057+7_2057+9delinsGAC