Canonical Allele Identifier: CA2638191170

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254460-C-CCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254460_44254461insCCCCA , CM000679.2:g.44254460_44254461insCCCCA	GRCh38
NC_000017.10:g.42331828_42331829insCCCCA , CM000679.1:g.42331828_42331829insCCCCA	GRCh37
NC_000017.9:g.39687354_39687355insCCCCA	NCBI36
NG_007498.1:g.18674_18675insTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+35_2057+36insTGGGG MANE Select	ENSP00000262418.6:n.2057+35_2057+36insTGGGG
ENST00000262418.10:c.2057+35_2057+36insTGGGG	ENSP00000262418.6:n.2057+35_2057+36insTGGGG
ENST00000399246.3:c.959+35_959+36insTGGGG	ENSP00000382190.3:n.959+35_959+36insTGGGG
NM_000342.3:c.2057+35_2057+36insTGGGG	NP_000333.1:n.2057+35_2057+36insTGGGG
XM_005257593.3:c.1862+35_1862+36insTGGGG	XP_005257650.1:n.1862+35_1862+36insTGGGG
XM_011525129.1:c.1967+35_1967+36insTGGGG	XP_011523431.1:n.1967+35_1967+36insTGGGG
XM_011525130.1:c.2057+35_2057+36insTGGGG	XP_011523432.1:n.2057+35_2057+36insTGGGG
XM_011525131.1:c.2057+35_2057+36insTGGGG	XP_011523433.1:n.2057+35_2057+36insTGGGG
XM_005257593.5:c.1862+35_1862+36insTGGGG	XP_005257650.1:n.1862+35_1862+36insTGGGG
XM_011525129.2:c.1967+35_1967+36insTGGGG	XP_011523431.1:n.1967+35_1967+36insTGGGG
NM_000342.4:c.2057+35_2057+36insTGGGG MANE Select	NP_000333.1:n.2057+35_2057+36insTGGGG