Canonical Allele Identifier: CA2535869830

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390711_132390712insCAGAGCC , CM000667.2:g.132390711_132390712insCAGAGCC	GRCh38
NC_000005.9:g.131726403_131726404insCAGAGCC , CM000667.1:g.131726403_131726404insCAGAGCC	GRCh37
NC_000005.8:g.131754302_131754303insCAGAGCC	NCBI36
NG_008982.1:g.26003_26004insCAGAGCC
NG_008982.2:g.26008_26009insCAGAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.915_916insCAGAGCC	ENSP00000388838.2:p.Phe306GlnfsTer8
ENST00000435065.7:c.1146_1147insCAGAGCC	ENSP00000402760.2:p.Phe383GlnfsTer8
ENST00000448810.6:c.1053-65_1053-64insCAGAGCC	ENSP00000401860.2:n.1053-65_1053-64insCAGAGCC
ENST00000685543.1:n.1215_1216insCAGAGCC
ENST00000686757.1:c.*238_*239insCAGAGCC	ENSP00000510721.1:n.*238_*239insCAGAGCC
ENST00000687740.1:n.3759_3760insCAGAGCC
ENST00000688151.1:n.2384_2385insCAGAGCC
ENST00000689271.1:c.921_922insCAGAGCC	ENSP00000510797.1:p.Phe308GlnfsTer8
ENST00000690900.1:c.*238_*239insCAGAGCC	ENSP00000510703.1:n.*238_*239insCAGAGCC
ENST00000692212.1:n.2686_2687insCAGAGCC
ENST00000692355.1:c.327_328insCAGAGCC
ENST00000692413.1:c.1056_1057insCAGAGCC	ENSP00000509374.1:p.Phe353GlnfsTer8
ENST00000692825.1:c.1142_1143insCAGAGCC	ENSP00000509447.1:n.1142_1143insCAGAGCC
ENST00000693308.1:c.1122_1123insCAGAGCC	ENSP00000509770.1:p.Phe375GlnfsTer8
ENST00000693763.1:n.2234_2235insCAGAGCC
ENST00000245407.8:c.1074_1075insCAGAGCC MANE Select	ENSP00000245407.3:p.Phe359GlnfsTer8
ENST00000245407.7:c.1074_1075insCAGAGCC	ENSP00000245407.3:p.Phe359GlnfsTer8
ENST00000435065.6:c.1146_1147insCAGAGCC	ENSP00000402760.2:p.Phe383GlnfsTer8
ENST00000447841.5:c.111+1690_111+1691insCAGAGCC
ENST00000448810.5:c.401-65_401-64insCAGAGCC
ENST00000461013.5:n.8496_8497insCAGAGCC
ENST00000475308.1:n.1752_1753insCAGAGCC
ENST00000479605.5:n.177_178insCAGAGCC
NM_001308122.1:c.1146_1147insCAGAGCC	NP_001295051.1:p.Phe383GlnfsTer8
NM_003060.3:c.1074_1075insCAGAGCC	NP_003051.1:p.Phe359GlnfsTer8
XM_011543590.1:c.456_457insCAGAGCC	XP_011541892.1:p.Phe153GlnfsTer8
XR_427718.1:n.1434_1435insCAGAGCC
XR_948290.1:n.1393+1690_1393+1691insCAGAGCC
XR_948291.1:n.1428_1429insCAGAGCC
XM_011543590.2:c.456_457insCAGAGCC	XP_011541892.1:p.Phe153GlnfsTer8
XM_017009778.2:c.546_547insCAGAGCC	XP_016865267.1:p.Phe183GlnfsTer8
XR_001742215.1:n.1394-65_1394-64insCAGAGCC
XR_001742216.1:n.1413-65_1413-64insCAGAGCC
XR_427718.2:n.1434_1435insCAGAGCC
XR_948290.2:n.1393+1690_1393+1691insCAGAGCC
XR_948291.2:n.1428_1429insCAGAGCC
NM_003060.4:c.1074_1075insCAGAGCC MANE Select	NP_003051.1:p.Phe359GlnfsTer8
NM_001308122.2:c.1146_1147insCAGAGCC	NP_001295051.1:p.Phe383GlnfsTer8