Canonical Allele Identifier: CA2638191158

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254457-T-TCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254460_44254461insCCCCC , CM000679.2:g.44254460_44254461insCCCCC	GRCh38
NC_000017.10:g.42331828_42331829insCCCCC , CM000679.1:g.42331828_42331829insCCCCC	GRCh37
NC_000017.9:g.39687354_39687355insCCCCC	NCBI36
NG_007498.1:g.18677_18678insGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+38_2057+39insGGGGG MANE Select	ENSP00000262418.6:n.2057+38_2057+39insGGGGG
ENST00000262418.10:c.2057+38_2057+39insGGGGG	ENSP00000262418.6:n.2057+38_2057+39insGGGGG
ENST00000399246.3:c.959+38_959+39insGGGGG	ENSP00000382190.3:n.959+38_959+39insGGGGG
NM_000342.3:c.2057+38_2057+39insGGGGG	NP_000333.1:n.2057+38_2057+39insGGGGG
XM_005257593.3:c.1862+38_1862+39insGGGGG	XP_005257650.1:n.1862+38_1862+39insGGGGG
XM_011525129.1:c.1967+38_1967+39insGGGGG	XP_011523431.1:n.1967+38_1967+39insGGGGG
XM_011525130.1:c.2057+38_2057+39insGGGGG	XP_011523432.1:n.2057+38_2057+39insGGGGG
XM_011525131.1:c.2057+38_2057+39insGGGGG	XP_011523433.1:n.2057+38_2057+39insGGGGG
XM_005257593.5:c.1862+38_1862+39insGGGGG	XP_005257650.1:n.1862+38_1862+39insGGGGG
XM_011525129.2:c.1967+38_1967+39insGGGGG	XP_011523431.1:n.1967+38_1967+39insGGGGG
NM_000342.4:c.2057+38_2057+39insGGGGG MANE Select	NP_000333.1:n.2057+38_2057+39insGGGGG