Canonical Allele Identifier: CA2261308163

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254278_44254279delinsGT , CM000679.2:g.44254278_44254279delinsGT	GRCh38
NC_000017.10:g.42331646_42331647delinsGT , CM000679.1:g.42331646_42331647delinsGT	GRCh37
NC_000017.9:g.39687172_39687173delinsGT	NCBI36
NG_007498.1:g.18856_18857delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+217_2057+218delinsAC MANE Select	ENSP00000262418.6:n.2057+217_2057+218delinsAC
ENST00000262418.10:c.2057+217_2057+218delinsAC	ENSP00000262418.6:n.2057+217_2057+218delinsAC
ENST00000399246.3:c.959+217_959+218delinsAC	ENSP00000382190.3:n.959+217_959+218delinsAC
NM_000342.3:c.2057+217_2057+218delinsAC	NP_000333.1:n.2057+217_2057+218delinsAC
XM_005257593.3:c.1862+217_1862+218delinsAC	XP_005257650.1:n.1862+217_1862+218delinsAC
XM_011525129.1:c.1967+217_1967+218delinsAC	XP_011523431.1:n.1967+217_1967+218delinsAC
XM_011525130.1:c.2057+217_2057+218delinsAC	XP_011523432.1:n.2057+217_2057+218delinsAC
XM_011525131.1:c.2057+217_2057+218delinsAC	XP_011523433.1:n.2057+217_2057+218delinsAC
XM_005257593.5:c.1862+217_1862+218delinsAC	XP_005257650.1:n.1862+217_1862+218delinsAC
XM_011525129.2:c.1967+217_1967+218delinsAC	XP_011523431.1:n.1967+217_1967+218delinsAC
NM_000342.4:c.2057+217_2057+218delinsAC MANE Select	NP_000333.1:n.2057+217_2057+218delinsAC