Canonical Allele Identifier: CA2261308245

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254485_44254486delinsCT , CM000679.2:g.44254485_44254486delinsCT	GRCh38
NC_000017.10:g.42331853_42331854delinsCT , CM000679.1:g.42331853_42331854delinsCT	GRCh37
NC_000017.9:g.39687379_39687380delinsCT	NCBI36
NG_007498.1:g.18649_18650delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+10_2057+11delinsAG MANE Select	ENSP00000262418.6:n.2057+10_2057+11delinsAG
ENST00000262418.10:c.2057+10_2057+11delinsAG	ENSP00000262418.6:n.2057+10_2057+11delinsAG
ENST00000399246.3:c.959+10_959+11delinsAG	ENSP00000382190.3:n.959+10_959+11delinsAG
NM_000342.3:c.2057+10_2057+11delinsAG	NP_000333.1:n.2057+10_2057+11delinsAG
XM_005257593.3:c.1862+10_1862+11delinsAG	XP_005257650.1:n.1862+10_1862+11delinsAG
XM_011525129.1:c.1967+10_1967+11delinsAG	XP_011523431.1:n.1967+10_1967+11delinsAG
XM_011525130.1:c.2057+10_2057+11delinsAG	XP_011523432.1:n.2057+10_2057+11delinsAG
XM_011525131.1:c.2057+10_2057+11delinsAG	XP_011523433.1:n.2057+10_2057+11delinsAG
XM_005257593.5:c.1862+10_1862+11delinsAG	XP_005257650.1:n.1862+10_1862+11delinsAG
XM_011525129.2:c.1967+10_1967+11delinsAG	XP_011523431.1:n.1967+10_1967+11delinsAG
NM_000342.4:c.2057+10_2057+11delinsAG MANE Select	NP_000333.1:n.2057+10_2057+11delinsAG