Canonical Allele Identifier: CA8031030

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488644_31488655del , CM000678.2:g.31488644_31488655del	GRCh38
NC_000016.9:g.31499965_31499976del , CM000678.1:g.31499965_31499976del	GRCh37
NC_000016.8:g.31407466_31407477del	NCBI36
NG_012892.1:g.10527_10538del
NG_033149.1:g.24775_24786del

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.1152_1163del MANE Select	NP_003032.1:p.Val385_Ala388del
ENST00000330498.4:c.1152_1163del MANE Select	ENSP00000327943.3:p.Val385_Ala388del
NM_003041.3:c.1152_1163del	NP_003032.1:p.Val385_Ala388del
NR_130783.1:n.1148+154_1148+165del
NR_130783.2:n.1143+154_1143+165del
ENST00000330498.3:c.1152_1163del	ENSP00000327943.3:p.Val385_Ala388del
ENST00000419665.6:c.1129+154_1129+165del	ENSP00000410601.2:n.1129+154_1129+165del
ENST00000568188.1:n.416_427del
ENST00000568891.1:n.281+154_281+165del
XM_006721072.2:c.1173_1184del	XP_006721135.2:p.Val392_Ala395del
XM_006721072.4:c.1173_1184del	XP_006721135.2:p.Val392_Ala395del
XM_006721073.2:c.1173_1184del	XP_006721136.2:p.Val392_Ala395del
XM_024450402.1:c.1150+154_1150+165del	XP_024306170.1:n.1150+154_1150+165del