Canonical Allele Identifier: CA2401804202

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104783_32104784delinsCA , CM000684.2:g.32104783_32104784delinsCA	GRCh38
NC_000022.10:g.32500770_32500771delinsCA , CM000684.1:g.32500770_32500771delinsCA	GRCh37
NC_000022.9:g.30830770_30830771delinsCA	NCBI36
NG_017045.1:g.66752_66753delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666-3_1666-2delinsCA MANE Select	ENSP00000266088.4:n.1666-3_1666-2delinsCA
ENST00000266088.8:c.1666-3_1666-2delinsCA	ENSP00000266088.4:n.1666-3_1666-2delinsCA
ENST00000543737.2:c.1285-3_1285-2delinsCA	ENSP00000444898.1:n.1285-3_1285-2delinsCA
NM_000343.3:c.1666-3_1666-2delinsCA	NP_000334.1:n.1666-3_1666-2delinsCA
NM_001256314.1:c.1285-3_1285-2delinsCA	NP_001243243.1:n.1285-3_1285-2delinsCA
XR_938173.1:n.591+2054_591+2055delinsTG
XR_938174.1:n.486+15071_486+15072delinsTG
NM_000343.4:c.1666-3_1666-2delinsCA MANE Select	NP_000334.1:n.1666-3_1666-2delinsCA
NM_001256314.2:c.1285-3_1285-2delinsCA	NP_001243243.1:n.1285-3_1285-2delinsCA