Canonical Allele Identifier: CA2638189699

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249716-G-GACGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249717_44249720dup , CM000679.2:g.44249717_44249720dup	GRCh38
NC_000017.10:g.42327085_42327088dup , CM000679.1:g.42327085_42327088dup	GRCh37
NC_000017.9:g.39682611_39682614dup	NCBI36
NG_007498.1:g.23415_23418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*738_*741dup MANE Select	ENSP00000262418.6:n.*738_*741dup
ENST00000262418.10:c.*738_*741dup	ENSP00000262418.6:n.*738_*741dup
ENST00000399246.3:c.*738_*741dup	ENSP00000382190.3:n.*738_*741dup
ENST00000631130.1:c.-470_-467dup	ENSP00000486787.1:n.-470_-467dup
NM_000342.3:c.*738_*741dup	NP_000333.1:n.*738_*741dup
XM_005257593.3:c.*738_*741dup	XP_005257650.1:n.*738_*741dup
XM_011525129.1:c.*738_*741dup	XP_011523431.1:n.*738_*741dup
XM_005257593.5:c.*738_*741dup	XP_005257650.1:n.*738_*741dup
XM_011525129.2:c.*738_*741dup	XP_011523431.1:n.*738_*741dup
NM_000342.4:c.*738_*741dup MANE Select	NP_000333.1:n.*738_*741dup