Canonical Allele Identifier: CA8031136

Gene: SLC5A2

Linked Data

• dbSNP Id: rs760742567
• ExAC: 16:31500338 T / TGGCGCTCTTCGTGCC
• gnomAD v2: 16-31500338-T-TGGCGCTCTTCGTGCC
• gnomAD v3: 16-31489017-T-TGGCGCTCTTCGTGCC
• gnomAD v4: 16-31489017-T-TGGCGCTCTTCGTGCC
• MyVariant Identifiers: chr16:g.31500338_31500339insGGCGCTCTTCGTGCC (hg19) ; chr16:g.31489017_31489018insGGCGCTCTTCGTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489019_31489033dup , CM000678.2:g.31489019_31489033dup	GRCh38
NC_000016.9:g.31500340_31500354dup , CM000678.1:g.31500340_31500354dup	GRCh37
NC_000016.8:g.31407841_31407855dup	NCBI36
NG_012892.1:g.10902_10916dup
NG_033149.1:g.24388_24402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1420_1434dup MANE Select	ENSP00000327943.3:p.Pro478_Arg479insAlaLeuPheValPro
ENST00000330498.3:c.1420_1434dup	ENSP00000327943.3:p.Pro478_Arg479insAlaLeuPheValPro
ENST00000419665.6:c.1130-104_1130-90dup	ENSP00000410601.2:n.1130-104_1130-90dup
ENST00000568188.1:n.791_805dup
ENST00000568891.1:n.282-104_282-90dup
NM_003041.3:c.1420_1434dup	NP_003032.1:p.Pro478_Arg479insAlaLeuPheValPro
NR_130783.1:n.1149-104_1149-90dup
XM_006721072.2:c.1441_1455dup	XP_006721135.2:p.Pro485_Arg486insAlaLeuPheValPro
XM_006721073.2:c.1302-104_1302-90dup	XP_006721136.2:n.1302-104_1302-90dup
XM_006721072.4:c.1441_1455dup	XP_006721135.2:p.Pro485_Arg486insAlaLeuPheValPro
XM_024450402.1:c.1151-104_1151-90dup	XP_024306170.1:n.1151-104_1151-90dup
NM_003041.4:c.1420_1434dup MANE Select	NP_003032.1:p.Pro478_Arg479insAlaLeuPheValPro
NR_130783.2:n.1144-104_1144-90dup