Canonical Allele Identifier: CA2695205158

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385420_132385423del , CM000667.2:g.132385420_132385423del	GRCh38
NC_000005.9:g.131721112_131721115del , CM000667.1:g.131721112_131721115del	GRCh37
NC_000005.8:g.131749011_131749014del	NCBI36
NG_008982.1:g.20712_20715del
NG_008982.2:g.20717_20720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1106_665+1109del	ENSP00000388838.2:n.665+1106_665+1109del
ENST00000435065.7:c.817_820del	ENSP00000402760.2:p.Phe273LeufsTer14
ENST00000448810.6:c.745_748del	ENSP00000401860.2:p.Phe249LeufsTer14
ENST00000686757.1:c.764_767del	ENSP00000510721.1:p.Val255AlafsTer?
ENST00000687740.1:n.1905_1908del
ENST00000688151.1:n.1937_1940del
ENST00000689271.1:c.671+1100_671+1103del	ENSP00000510797.1:n.671+1100_671+1103del
ENST00000690900.1:c.716_719del	ENSP00000510703.1:p.Val239AlafsTer?
ENST00000692212.1:n.571_574del
ENST00000692355.1:c.204+1119_204+1122del
ENST00000692413.1:c.764_767del	ENSP00000509374.1:p.Val255AlafsTer?
ENST00000692825.1:c.813_816del	ENSP00000509447.1:n.813_816del
ENST00000693308.1:c.758_761del	ENSP00000509770.1:p.Val253AlafsTer?
ENST00000693763.1:n.1905_1908del
ENST00000245407.8:c.745_748del MANE Select	ENSP00000245407.3:p.Phe249LeufsTer14
ENST00000245407.7:c.745_748del	ENSP00000245407.3:p.Phe249LeufsTer14
ENST00000415928.5:c.514_517del	ENSP00000388838.1:p.Phe172LeufsTer14
ENST00000435065.6:c.817_820del	ENSP00000402760.2:p.Phe273LeufsTer14
ENST00000437841.6:c.*60_*63del	ENSP00000400553.1:n.*60_*63del
ENST00000448810.5:c.93_96del
ENST00000461013.5:n.8167_8170del
NM_001308122.1:c.817_820del	NP_001295051.1:p.Phe273LeufsTer14
NM_003060.3:c.745_748del	NP_003051.1:p.Phe249LeufsTer14
XM_011543590.1:c.127_130del	XP_011541892.1:p.Phe43LeufsTer14
XR_427718.1:n.1105_1108del
XR_948290.1:n.1086_1089del
XR_948291.1:n.1099_1102del
XM_011543590.2:c.127_130del	XP_011541892.1:p.Phe43LeufsTer14
XM_017009778.2:c.217_220del	XP_016865267.1:p.Phe73LeufsTer14
XR_001742215.1:n.1086_1089del
XR_001742216.1:n.1105_1108del
XR_427718.2:n.1105_1108del
XR_948290.2:n.1086_1089del
XR_948291.2:n.1099_1102del
NM_003060.4:c.745_748del MANE Select	NP_003051.1:p.Phe249LeufsTer14
NM_001308122.2:c.817_820del	NP_001295051.1:p.Phe273LeufsTer14