Canonical Allele Identifier: CA2831038936

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385480_132385486del , CM000667.2:g.132385480_132385486del	GRCh38
NC_000005.9:g.131721172_131721178del , CM000667.1:g.131721172_131721178del	GRCh37
NC_000005.8:g.131749071_131749077del	NCBI36
NG_008982.1:g.20772_20778del
NG_008982.2:g.20777_20783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1166_665+1172del	ENSP00000388838.2:n.665+1166_665+1172del
ENST00000435065.7:c.877_883del	ENSP00000402760.2:p.Leu293TrpfsTer25
ENST00000448810.6:c.805_811del	ENSP00000401860.2:p.Leu269TrpfsTer25
ENST00000686757.1:c.824_830del	ENSP00000510721.1:p.Ala275ValfsTer?
ENST00000687740.1:n.1965_1971del
ENST00000688151.1:n.1997_2003del
ENST00000689271.1:c.671+1160_671+1166del	ENSP00000510797.1:n.671+1160_671+1166del
ENST00000690900.1:c.776_782del	ENSP00000510703.1:p.Ala259ValfsTer?
ENST00000692212.1:n.631_637del
ENST00000692355.1:c.204+1179_204+1185del
ENST00000692413.1:c.824_830del	ENSP00000509374.1:p.Ala275ValfsTer13
ENST00000692825.1:c.873_879del	ENSP00000509447.1:n.873_879del
ENST00000693308.1:c.818_824del	ENSP00000509770.1:p.Ala273ValfsTer?
ENST00000693763.1:n.1965_1971del
ENST00000245407.8:c.805_811del MANE Select	ENSP00000245407.3:p.Leu269TrpfsTer25
ENST00000245407.7:c.805_811del	ENSP00000245407.3:p.Leu269TrpfsTer25
ENST00000415928.5:c.574_580del	ENSP00000388838.1:p.Leu192TrpfsTer25
ENST00000435065.6:c.877_883del	ENSP00000402760.2:p.Leu293TrpfsTer25
ENST00000437841.6:c.*120_*126del	ENSP00000400553.1:n.*120_*126del
ENST00000448810.5:c.153_159del
ENST00000461013.5:n.8227_8233del
NM_001308122.1:c.877_883del	NP_001295051.1:p.Leu293TrpfsTer25
NM_003060.3:c.805_811del	NP_003051.1:p.Leu269TrpfsTer25
XM_011543590.1:c.187_193del	XP_011541892.1:p.Leu63TrpfsTer25
XR_427718.1:n.1165_1171del
XR_948290.1:n.1146_1152del
XR_948291.1:n.1159_1165del
XM_011543590.2:c.187_193del	XP_011541892.1:p.Leu63TrpfsTer25
XM_017009778.2:c.277_283del	XP_016865267.1:p.Leu93TrpfsTer25
XR_001742215.1:n.1146_1152del
XR_001742216.1:n.1165_1171del
XR_427718.2:n.1165_1171del
XR_948290.2:n.1146_1152del
XR_948291.2:n.1159_1165del
NM_003060.4:c.805_811del MANE Select	NP_003051.1:p.Leu269TrpfsTer25
NM_001308122.2:c.877_883del	NP_001295051.1:p.Leu293TrpfsTer25