Canonical Allele Identifier: CA2638191193

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254461-A-AACCCCGCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254461_44254462insACCCCGCCCCCCCC , CM000679.2:g.44254461_44254462insACCCCGCCCCCCCC	GRCh38
NC_000017.10:g.42331829_42331830insACCCCGCCCCCCCC , CM000679.1:g.42331829_42331830insACCCCGCCCCCCCC	GRCh37
NC_000017.9:g.39687355_39687356insACCCCGCCCCCCCC	NCBI36
NG_007498.1:g.18673_18674insGGGGGGGGCGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+34_2057+35insGGGGGGGGCGGGGT MANE Select	ENSP00000262418.6:n.2057+34_2057+35insGGGGGGGGCGGGGT
ENST00000262418.10:c.2057+34_2057+35insGGGGGGGGCGGGGT	ENSP00000262418.6:n.2057+34_2057+35insGGGGGGGGCGGGGT
ENST00000399246.3:c.959+34_959+35insGGGGGGGGCGGGGT	ENSP00000382190.3:n.959+34_959+35insGGGGGGGGCGGGGT
NM_000342.3:c.2057+34_2057+35insGGGGGGGGCGGGGT	NP_000333.1:n.2057+34_2057+35insGGGGGGGGCGGGGT
XM_005257593.3:c.1862+34_1862+35insGGGGGGGGCGGGGT	XP_005257650.1:n.1862+34_1862+35insGGGGGGGGCGGGGT
XM_011525129.1:c.1967+34_1967+35insGGGGGGGGCGGGGT	XP_011523431.1:n.1967+34_1967+35insGGGGGGGGCGGGGT
XM_011525130.1:c.2057+34_2057+35insGGGGGGGGCGGGGT	XP_011523432.1:n.2057+34_2057+35insGGGGGGGGCGGGGT
XM_011525131.1:c.2057+34_2057+35insGGGGGGGGCGGGGT	XP_011523433.1:n.2057+34_2057+35insGGGGGGGGCGGGGT
XM_005257593.5:c.1862+34_1862+35insGGGGGGGGCGGGGT	XP_005257650.1:n.1862+34_1862+35insGGGGGGGGCGGGGT
XM_011525129.2:c.1967+34_1967+35insGGGGGGGGCGGGGT	XP_011523431.1:n.1967+34_1967+35insGGGGGGGGCGGGGT
NM_000342.4:c.2057+34_2057+35insGGGGGGGGCGGGGT MANE Select	NP_000333.1:n.2057+34_2057+35insGGGGGGGGCGGGGT