Canonical Allele Identifier: CA2638191291

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254485-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254485_44254486insCAG , CM000679.2:g.44254485_44254486insCAG	GRCh38
NC_000017.10:g.42331853_42331854insCAG , CM000679.1:g.42331853_42331854insCAG	GRCh37
NC_000017.9:g.39687379_39687380insCAG	NCBI36
NG_007498.1:g.18649_18650insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+10_2057+11insCTG MANE Select	ENSP00000262418.6:n.2057+10_2057+11insCTG
ENST00000262418.10:c.2057+10_2057+11insCTG	ENSP00000262418.6:n.2057+10_2057+11insCTG
ENST00000399246.3:c.959+10_959+11insCTG	ENSP00000382190.3:n.959+10_959+11insCTG
NM_000342.3:c.2057+10_2057+11insCTG	NP_000333.1:n.2057+10_2057+11insCTG
XM_005257593.3:c.1862+10_1862+11insCTG	XP_005257650.1:n.1862+10_1862+11insCTG
XM_011525129.1:c.1967+10_1967+11insCTG	XP_011523431.1:n.1967+10_1967+11insCTG
XM_011525130.1:c.2057+10_2057+11insCTG	XP_011523432.1:n.2057+10_2057+11insCTG
XM_011525131.1:c.2057+10_2057+11insCTG	XP_011523433.1:n.2057+10_2057+11insCTG
XM_005257593.5:c.1862+10_1862+11insCTG	XP_005257650.1:n.1862+10_1862+11insCTG
XM_011525129.2:c.1967+10_1967+11insCTG	XP_011523431.1:n.1967+10_1967+11insCTG
NM_000342.4:c.2057+10_2057+11insCTG MANE Select	NP_000333.1:n.2057+10_2057+11insCTG