Canonical Allele Identifier: CA290924199

Gene: SLC4A1

Linked Data

• dbSNP Id: rs773162738
• gnomAD v2: 17-42327088-CCTCT-C
• gnomAD v3: 17-44249720-CCTCT-C
• gnomAD v4: 17-44249720-CCTCT-C
• MyVariant Identifiers: chr17:g.42327089_42327092del (hg19) ; chr17:g.44249721_44249724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249725_44249728del , CM000679.2:g.44249725_44249728del	GRCh38
NC_000017.10:g.42327093_42327096del , CM000679.1:g.42327093_42327096del	GRCh37
NC_000017.9:g.39682619_39682622del	NCBI36
NG_007498.1:g.23411_23414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*734_*737del MANE Select	ENSP00000262418.6:n.*734_*737del
ENST00000262418.10:c.*734_*737del	ENSP00000262418.6:n.*734_*737del
ENST00000399246.3:c.*734_*737del	ENSP00000382190.3:n.*734_*737del
ENST00000631130.1:c.-474_-471del	ENSP00000486787.1:n.-474_-471del
NM_000342.3:c.*734_*737del	NP_000333.1:n.*734_*737del
XM_005257593.3:c.*734_*737del	XP_005257650.1:n.*734_*737del
XM_011525129.1:c.*734_*737del	XP_011523431.1:n.*734_*737del
XM_005257593.5:c.*734_*737del	XP_005257650.1:n.*734_*737del
XM_011525129.2:c.*734_*737del	XP_011523431.1:n.*734_*737del
NM_000342.4:c.*734_*737del MANE Select	NP_000333.1:n.*734_*737del