Canonical Allele Identifier: CA2638189692

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249703-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249703_44249704insC , CM000679.2:g.44249703_44249704insC	GRCh38
NC_000017.10:g.42327071_42327072insC , CM000679.1:g.42327071_42327072insC	GRCh37
NC_000017.9:g.39682597_39682598insC	NCBI36
NG_007498.1:g.23431_23432insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*754_*755insG MANE Select	ENSP00000262418.6:n.*754_*755insG
ENST00000262418.10:c.*754_*755insG	ENSP00000262418.6:n.*754_*755insG
ENST00000399246.3:c.*754_*755insG	ENSP00000382190.3:n.*754_*755insG
ENST00000631130.1:c.-454_-453insG	ENSP00000486787.1:n.-454_-453insG
NM_000342.3:c.*754_*755insG	NP_000333.1:n.*754_*755insG
XM_005257593.3:c.*754_*755insG	XP_005257650.1:n.*754_*755insG
XM_011525129.1:c.*754_*755insG	XP_011523431.1:n.*754_*755insG
XM_005257593.5:c.*754_*755insG	XP_005257650.1:n.*754_*755insG
XM_011525129.2:c.*754_*755insG	XP_011523431.1:n.*754_*755insG
NM_000342.4:c.*754_*755insG MANE Select	NP_000333.1:n.*754_*755insG