Canonical Allele Identifier: CA913108212

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729470_131729471del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393778_132393779del , CM000667.2:g.132393778_132393779del	GRCh38
NC_000005.9:g.131729470_131729471del , CM000667.1:g.131729470_131729471del	GRCh37
NC_000005.8:g.131757369_131757370del	NCBI36
NG_008982.1:g.29070_29071del
NG_008982.2:g.29075_29076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-407_1292-406del	ENSP00000388838.2:n.1292-407_1292-406del
ENST00000435065.7:c.1625_1626del	ENSP00000402760.2:p.Pro542ArgfsTer4
ENST00000448810.6:c.*405_*406del	ENSP00000401860.2:n.*405_*406del
ENST00000685543.1:n.1694_1695del
ENST00000686757.1:c.*717_*718del	ENSP00000510721.1:n.*717_*718del
ENST00000686868.1:n.545_546del
ENST00000687740.1:n.4238_4239del
ENST00000688151.1:n.2863_2864del
ENST00000689271.1:c.1400_1401del	ENSP00000510797.1:p.Pro467ArgfsTer4
ENST00000690900.1:c.*717_*718del	ENSP00000510703.1:n.*717_*718del
ENST00000692212.1:n.4693_4694del
ENST00000692355.1:c.806_807del
ENST00000692413.1:c.1535_1536del	ENSP00000509374.1:p.Pro512ArgfsTer4
ENST00000692825.1:c.1621_1622del	ENSP00000509447.1:n.1621_1622del
ENST00000693308.1:c.1601_1602del	ENSP00000509770.1:p.Pro534ArgfsTer4
ENST00000693763.1:n.2713_2714del
ENST00000245407.8:c.1553_1554del MANE Select	ENSP00000245407.3:p.Pro518ArgfsTer4
ENST00000245407.7:c.1553_1554del	ENSP00000245407.3:p.Pro518ArgfsTer4
ENST00000435065.6:c.1625_1626del	ENSP00000402760.2:p.Pro542ArgfsTer4
ENST00000447841.5:c.397_398del
ENST00000448810.5:c.815_816del
ENST00000461013.5:n.8975_8976del
ENST00000475308.1:n.2231_2232del
NM_001308122.1:c.1625_1626del	NP_001295051.1:p.Pro542ArgfsTer4
NM_003060.3:c.1553_1554del	NP_003051.1:p.Pro518ArgfsTer4
XM_011543590.1:c.935_936del	XP_011541892.1:p.Pro312ArgfsTer4
XR_948290.1:n.1679_1680del
XM_011543590.2:c.935_936del	XP_011541892.1:p.Pro312ArgfsTer4
XM_017009778.2:c.1025_1026del	XP_016865267.1:p.Pro342ArgfsTer4
XR_001742215.1:n.1808_1809del
XR_001742216.1:n.1827_1828del
XR_427718.2:n.1913_1914del
XR_948290.2:n.1679_1680del
XR_948291.2:n.1907_1908del
NM_003060.4:c.1553_1554del MANE Select	NP_003051.1:p.Pro518ArgfsTer4
NM_001308122.2:c.1625_1626del	NP_001295051.1:p.Pro542ArgfsTer4