Canonical Allele Identifier: CA803987355

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1335393509
• MyVariant Identifiers: chr5:g.131719854_131719855del (hg19) ; chr5:g.132384162_132384163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384164_132384165del , CM000667.2:g.132384164_132384165del	GRCh38
NC_000005.9:g.131719856_131719857del , CM000667.1:g.131719856_131719857del	GRCh37
NC_000005.8:g.131747755_131747756del	NCBI36
NG_008982.1:g.19456_19457del
NG_008982.2:g.19461_19462del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.515_516del	ENSP00000388838.2:p.Val172AlafsTer22
ENST00000435065.7:c.587_588del	ENSP00000402760.2:p.Val196AlafsTer22
ENST00000448810.6:c.515_516del	ENSP00000401860.2:p.Val172AlafsTer22
ENST00000686757.1:c.515_516del	ENSP00000510721.1:p.Val172AlafsTer22
ENST00000687740.1:n.649_650del
ENST00000688151.1:n.1694_1695del
ENST00000689271.1:c.515_516del	ENSP00000510797.1:p.Val172AlafsTer22
ENST00000690900.1:c.515_516del	ENSP00000510703.1:p.Val172AlafsTer22
ENST00000692355.1:c.67_68del
ENST00000692413.1:c.515_516del	ENSP00000509374.1:p.Val172AlafsTer22
ENST00000692825.1:c.583_584del	ENSP00000509447.1:n.583_584del
ENST00000693308.1:c.515_516del	ENSP00000509770.1:p.Val172AlafsTer22
ENST00000693763.1:n.649_650del
ENST00000245407.8:c.515_516del MANE Select	ENSP00000245407.3:p.Val172AlafsTer22
ENST00000245407.7:c.515_516del	ENSP00000245407.3:p.Val172AlafsTer22
ENST00000415928.5:c.284_285del	ENSP00000388838.1:p.Val95AlafsTer22
ENST00000435065.6:c.587_588del	ENSP00000402760.2:p.Val196AlafsTer22
ENST00000437841.6:c.394-1164_394-1163del	ENSP00000400553.1:n.394-1164_394-1163del
ENST00000461013.5:n.7937_7938del
NM_001308122.1:c.587_588del	NP_001295051.1:p.Val196AlafsTer22
NM_003060.3:c.515_516del	NP_003051.1:p.Val172AlafsTer22
XR_427718.1:n.856_857del
XR_948290.1:n.856_857del
XR_948291.1:n.856_857del
XM_011543590.2:c.-117_-116del	XP_011541892.1:n.-117_-116del
XM_017009778.2:c.-14_-13del	XP_016865267.1:n.-14_-13del
XR_001742215.1:n.856_857del
XR_001742216.1:n.856_857del
XR_427718.2:n.856_857del
XR_948290.2:n.856_857del
XR_948291.2:n.856_857del
NM_003060.4:c.515_516del MANE Select	NP_003051.1:p.Val172AlafsTer22
NM_001308122.2:c.587_588del	NP_001295051.1:p.Val196AlafsTer22