Canonical Allele Identifier: CA2638191231

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254466-C-CCCCCGGCCCCCCCCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254468_44254469insCCGGCCCCCCCCCCAACC , CM000679.2:g.44254468_44254469insCCGGCCCCCCCCCCAACC	GRCh38
NC_000017.10:g.42331836_42331837insCCGGCCCCCCCCCCAACC , CM000679.1:g.42331836_42331837insCCGGCCCCCCCCCCAACC	GRCh37
NC_000017.9:g.39687362_39687363insCCGGCCCCCCCCCCAACC	NCBI36
NG_007498.1:g.18668_18669insTTGGGGGGGGGGCCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG MANE Select	ENSP00000262418.6:n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG
ENST00000262418.10:c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG	ENSP00000262418.6:n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG
ENST00000399246.3:c.959+29_959+30insTTGGGGGGGGGGCCGGGG	ENSP00000382190.3:n.959+29_959+30insTTGGGGGGGGGGCCGGGG
NM_000342.3:c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG	NP_000333.1:n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG
XM_005257593.3:c.1862+29_1862+30insTTGGGGGGGGGGCCGGGG	XP_005257650.1:n.1862+29_1862+30insTTGGGGGGGGGGCCGGGG
XM_011525129.1:c.1967+29_1967+30insTTGGGGGGGGGGCCGGGG	XP_011523431.1:n.1967+29_1967+30insTTGGGGGGGGGGCCGGGG
XM_011525130.1:c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG	XP_011523432.1:n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG
XM_011525131.1:c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG	XP_011523433.1:n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG
XM_005257593.5:c.1862+29_1862+30insTTGGGGGGGGGGCCGGGG	XP_005257650.1:n.1862+29_1862+30insTTGGGGGGGGGGCCGGGG
XM_011525129.2:c.1967+29_1967+30insTTGGGGGGGGGGCCGGGG	XP_011523431.1:n.1967+29_1967+30insTTGGGGGGGGGGCCGGGG
NM_000342.4:c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG MANE Select	NP_000333.1:n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG