Canonical Allele Identifier: CA2656284902

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32104754-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104757del , CM000684.2:g.32104757del	GRCh38
NC_000022.10:g.32500744del , CM000684.1:g.32500744del	GRCh37
NC_000022.9:g.30830744del	NCBI36
NG_017045.1:g.66726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666-29del MANE Select	ENSP00000266088.4:n.1666-29del
ENST00000266088.8:c.1666-29del	ENSP00000266088.4:n.1666-29del
ENST00000543737.2:c.1285-29del	ENSP00000444898.1:n.1285-29del
NM_000343.3:c.1666-29del	NP_000334.1:n.1666-29del
NM_001256314.1:c.1285-29del	NP_001243243.1:n.1285-29del
XR_938173.1:n.591+2083del
XR_938174.1:n.486+15100del
NM_000343.4:c.1666-29del MANE Select	NP_000334.1:n.1666-29del
NM_001256314.2:c.1285-29del	NP_001243243.1:n.1285-29del