Canonical Allele Identifier: CA2656284884

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32104718-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104718_32104719insT , CM000684.2:g.32104718_32104719insT	GRCh38
NC_000022.10:g.32500705_32500706insT , CM000684.1:g.32500705_32500706insT	GRCh37
NC_000022.9:g.30830705_30830706insT	NCBI36
NG_017045.1:g.66687_66688insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666-68_1666-67insT MANE Select	ENSP00000266088.4:n.1666-68_1666-67insT
ENST00000266088.8:c.1666-68_1666-67insT	ENSP00000266088.4:n.1666-68_1666-67insT
ENST00000543737.2:c.1285-68_1285-67insT	ENSP00000444898.1:n.1285-68_1285-67insT
NM_000343.3:c.1666-68_1666-67insT	NP_000334.1:n.1666-68_1666-67insT
NM_001256314.1:c.1285-68_1285-67insT	NP_001243243.1:n.1285-68_1285-67insT
XR_938173.1:n.591+2119_591+2120insA
XR_938174.1:n.486+15136_486+15137insA
NM_000343.4:c.1666-68_1666-67insT MANE Select	NP_000334.1:n.1666-68_1666-67insT
NM_001256314.2:c.1285-68_1285-67insT	NP_001243243.1:n.1285-68_1285-67insT