Canonical Allele Identifier: CA2632887060

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31488974-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488978_31488979del , CM000678.2:g.31488978_31488979del	GRCh38
NC_000016.9:g.31500299_31500300del , CM000678.1:g.31500299_31500300del	GRCh37
NC_000016.8:g.31407800_31407801del	NCBI36
NG_012892.1:g.10861_10862del
NG_033149.1:g.24444_24445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1379_1380del MANE Select	ENSP00000327943.3:p.Ser460Ter
ENST00000330498.3:c.1379_1380del	ENSP00000327943.3:p.Ser460Ter
ENST00000419665.6:c.1130-145_1130-144del	ENSP00000410601.2:n.1130-145_1130-144del
ENST00000568188.1:n.750_751del
ENST00000568891.1:n.282-145_282-144del
NM_003041.3:c.1379_1380del	NP_003032.1:p.Ser460Ter
NR_130783.1:n.1149-145_1149-144del
XM_006721072.2:c.1400_1401del	XP_006721135.2:p.Ser467Ter
XM_006721073.2:c.1302-145_1302-144del	XP_006721136.2:n.1302-145_1302-144del
XM_006721072.4:c.1400_1401del	XP_006721135.2:p.Ser467Ter
XM_024450402.1:c.1151-145_1151-144del	XP_024306170.1:n.1151-145_1151-144del
NM_003041.4:c.1379_1380del MANE Select	NP_003032.1:p.Ser460Ter
NR_130783.2:n.1144-145_1144-144del