Canonical Allele Identifier: CA1583144558

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393771_132393772dup , CM000667.2:g.132393771_132393772dup	GRCh38
NC_000005.9:g.131729463_131729464dup , CM000667.1:g.131729463_131729464dup	GRCh37
NC_000005.8:g.131757362_131757363dup	NCBI36
NG_008982.1:g.29063_29064dup
NG_008982.2:g.29068_29069dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-414_1292-413dup	ENSP00000388838.2:n.1292-414_1292-413dup
ENST00000435065.7:c.1618_1619dup	ENSP00000402760.2:p.Leu541HisfsTer10
ENST00000448810.6:c.*398_*399dup	ENSP00000401860.2:n.*398_*399dup
ENST00000685543.1:n.1687_1688dup
ENST00000686757.1:c.*710_*711dup	ENSP00000510721.1:n.*710_*711dup
ENST00000686868.1:n.538_539dup
ENST00000687740.1:n.4231_4232dup
ENST00000688151.1:n.2856_2857dup
ENST00000689271.1:c.1393_1394dup	ENSP00000510797.1:p.Leu466HisfsTer10
ENST00000690900.1:c.*710_*711dup	ENSP00000510703.1:n.*710_*711dup
ENST00000692212.1:n.4686_4687dup
ENST00000692355.1:c.799_800dup
ENST00000692413.1:c.1528_1529dup	ENSP00000509374.1:p.Leu511HisfsTer10
ENST00000692825.1:c.1614_1615dup	ENSP00000509447.1:n.1614_1615dup
ENST00000693308.1:c.1594_1595dup	ENSP00000509770.1:p.Leu533HisfsTer10
ENST00000693763.1:n.2706_2707dup
ENST00000245407.8:c.1546_1547dup MANE Select	ENSP00000245407.3:p.Leu517HisfsTer10
ENST00000245407.7:c.1546_1547dup	ENSP00000245407.3:p.Leu517HisfsTer10
ENST00000435065.6:c.1618_1619dup	ENSP00000402760.2:p.Leu541HisfsTer10
ENST00000447841.5:c.390_391dup
ENST00000448810.5:c.808_809dup
ENST00000461013.5:n.8968_8969dup
ENST00000475308.1:n.2224_2225dup
NM_001308122.1:c.1618_1619dup	NP_001295051.1:p.Leu541HisfsTer10
NM_003060.3:c.1546_1547dup	NP_003051.1:p.Leu517HisfsTer10
XM_011543590.1:c.928_929dup	XP_011541892.1:p.Leu311HisfsTer10
XR_948290.1:n.1672_1673dup
XM_011543590.2:c.928_929dup	XP_011541892.1:p.Leu311HisfsTer10
XM_017009778.2:c.1018_1019dup	XP_016865267.1:p.Leu341HisfsTer10
XR_001742215.1:n.1801_1802dup
XR_001742216.1:n.1820_1821dup
XR_427718.2:n.1906_1907dup
XR_948290.2:n.1672_1673dup
XR_948291.2:n.1900_1901dup
NM_003060.4:c.1546_1547dup MANE Select	NP_003051.1:p.Leu517HisfsTer10
NM_001308122.2:c.1618_1619dup	NP_001295051.1:p.Leu541HisfsTer10