Canonical Allele Identifier: CA2576289167

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254453_44254460del , CM000679.2:g.44254453_44254460del	GRCh38
NC_000017.10:g.42331821_42331828del , CM000679.1:g.42331821_42331828del	GRCh37
NC_000017.9:g.39687347_39687354del	NCBI36
NG_007498.1:g.18679_18686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+40_2057+47del MANE Select	ENSP00000262418.6:n.2057+40_2057+47del
ENST00000262418.10:c.2057+40_2057+47del	ENSP00000262418.6:n.2057+40_2057+47del
ENST00000399246.3:c.959+40_959+47del	ENSP00000382190.3:n.959+40_959+47del
NM_000342.3:c.2057+40_2057+47del	NP_000333.1:n.2057+40_2057+47del
XM_005257593.3:c.1862+40_1862+47del	XP_005257650.1:n.1862+40_1862+47del
XM_011525129.1:c.1967+40_1967+47del	XP_011523431.1:n.1967+40_1967+47del
XM_011525130.1:c.2057+40_2057+47del	XP_011523432.1:n.2057+40_2057+47del
XM_011525131.1:c.2057+40_2057+47del	XP_011523433.1:n.2057+40_2057+47del
XM_005257593.5:c.1862+40_1862+47del	XP_005257650.1:n.1862+40_1862+47del
XM_011525129.2:c.1967+40_1967+47del	XP_011523431.1:n.1967+40_1967+47del
NM_000342.4:c.2057+40_2057+47del MANE Select	NP_000333.1:n.2057+40_2057+47del