Canonical Allele Identifier: CA2638191262

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254471-G-GCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254474_44254475insCCCCCCCCCCCC , CM000679.2:g.44254474_44254475insCCCCCCCCCCCC	GRCh38
NC_000017.10:g.42331842_42331843insCCCCCCCCCCCC , CM000679.1:g.42331842_42331843insCCCCCCCCCCCC	GRCh37
NC_000017.9:g.39687368_39687369insCCCCCCCCCCCC	NCBI36
NG_007498.1:g.18663_18664insGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+24_2057+25insGGGGGGGGGGGG MANE Select	ENSP00000262418.6:n.2057+24_2057+25insGGGGGGGGGGGG
ENST00000262418.10:c.2057+24_2057+25insGGGGGGGGGGGG	ENSP00000262418.6:n.2057+24_2057+25insGGGGGGGGGGGG
ENST00000399246.3:c.959+24_959+25insGGGGGGGGGGGG	ENSP00000382190.3:n.959+24_959+25insGGGGGGGGGGGG
NM_000342.3:c.2057+24_2057+25insGGGGGGGGGGGG	NP_000333.1:n.2057+24_2057+25insGGGGGGGGGGGG
XM_005257593.3:c.1862+24_1862+25insGGGGGGGGGGGG	XP_005257650.1:n.1862+24_1862+25insGGGGGGGGGGGG
XM_011525129.1:c.1967+24_1967+25insGGGGGGGGGGGG	XP_011523431.1:n.1967+24_1967+25insGGGGGGGGGGGG
XM_011525130.1:c.2057+24_2057+25insGGGGGGGGGGGG	XP_011523432.1:n.2057+24_2057+25insGGGGGGGGGGGG
XM_011525131.1:c.2057+24_2057+25insGGGGGGGGGGGG	XP_011523433.1:n.2057+24_2057+25insGGGGGGGGGGGG
XM_005257593.5:c.1862+24_1862+25insGGGGGGGGGGGG	XP_005257650.1:n.1862+24_1862+25insGGGGGGGGGGGG
XM_011525129.2:c.1967+24_1967+25insGGGGGGGGGGGG	XP_011523431.1:n.1967+24_1967+25insGGGGGGGGGGGG
NM_000342.4:c.2057+24_2057+25insGGGGGGGGGGGG MANE Select	NP_000333.1:n.2057+24_2057+25insGGGGGGGGGGGG