Canonical Allele Identifier: CA2638191159

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254457-T-TCCCCCCCAACCCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254460_44254461insCCCCAACCCAGCCCC , CM000679.2:g.44254460_44254461insCCCCAACCCAGCCCC	GRCh38
NC_000017.10:g.42331828_42331829insCCCCAACCCAGCCCC , CM000679.1:g.42331828_42331829insCCCCAACCCAGCCCC	GRCh37
NC_000017.9:g.39687354_39687355insCCCCAACCCAGCCCC	NCBI36
NG_007498.1:g.18677_18678insGCTGGGTTGGGGGGG

Transcript Alleles

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