Canonical Allele Identifier: CA2638191128

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254454-G-GCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254456_44254457insAACC , CM000679.2:g.44254456_44254457insAACC	GRCh38
NC_000017.10:g.42331824_42331825insAACC , CM000679.1:g.42331824_42331825insAACC	GRCh37
NC_000017.9:g.39687350_39687351insAACC	NCBI36
NG_007498.1:g.18680_18681insTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+41_2057+42insTTGG MANE Select	ENSP00000262418.6:n.2057+41_2057+42insTTGG
ENST00000262418.10:c.2057+41_2057+42insTTGG	ENSP00000262418.6:n.2057+41_2057+42insTTGG
ENST00000399246.3:c.959+41_959+42insTTGG	ENSP00000382190.3:n.959+41_959+42insTTGG
NM_000342.3:c.2057+41_2057+42insTTGG	NP_000333.1:n.2057+41_2057+42insTTGG
XM_005257593.3:c.1862+41_1862+42insTTGG	XP_005257650.1:n.1862+41_1862+42insTTGG
XM_011525129.1:c.1967+41_1967+42insTTGG	XP_011523431.1:n.1967+41_1967+42insTTGG
XM_011525130.1:c.2057+41_2057+42insTTGG	XP_011523432.1:n.2057+41_2057+42insTTGG
XM_011525131.1:c.2057+41_2057+42insTTGG	XP_011523433.1:n.2057+41_2057+42insTTGG
XM_005257593.5:c.1862+41_1862+42insTTGG	XP_005257650.1:n.1862+41_1862+42insTTGG
XM_011525129.2:c.1967+41_1967+42insTTGG	XP_011523431.1:n.1967+41_1967+42insTTGG
NM_000342.4:c.2057+41_2057+42insTTGG MANE Select	NP_000333.1:n.2057+41_2057+42insTTGG