Canonical Allele Identifier: CA2695223471

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489017_31489031dup , CM000678.2:g.31489017_31489031dup	GRCh38
NC_000016.9:g.31500338_31500352dup , CM000678.1:g.31500338_31500352dup	GRCh37
NC_000016.8:g.31407839_31407853dup	NCBI36
NG_012892.1:g.10900_10914dup
NG_033149.1:g.24398_24412dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1418_1432dup MANE Select	ENSP00000327943.3:p.Val477_Pro478insLeuAlaLeuPheVal
ENST00000330498.3:c.1418_1432dup	ENSP00000327943.3:p.Val477_Pro478insLeuAlaLeuPheVal
ENST00000419665.6:c.1130-106_1130-92dup	ENSP00000410601.2:n.1130-106_1130-92dup
ENST00000568188.1:n.789_803dup
ENST00000568891.1:n.282-106_282-92dup
NM_003041.3:c.1418_1432dup	NP_003032.1:p.Val477_Pro478insLeuAlaLeuPheVal
NR_130783.1:n.1149-106_1149-92dup
XM_006721072.2:c.1439_1453dup	XP_006721135.2:p.Val484_Pro485insLeuAlaLeuPheVal
XM_006721073.2:c.1302-106_1302-92dup	XP_006721136.2:n.1302-106_1302-92dup
XM_006721072.4:c.1439_1453dup	XP_006721135.2:p.Val484_Pro485insLeuAlaLeuPheVal
XM_024450402.1:c.1151-106_1151-92dup	XP_024306170.1:n.1151-106_1151-92dup
NM_003041.4:c.1418_1432dup MANE Select	NP_003032.1:p.Val477_Pro478insLeuAlaLeuPheVal
NR_130783.2:n.1144-106_1144-92dup