Canonical Allele Identifier: CA2695205150

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370207_132370210del , CM000667.2:g.132370207_132370210del	GRCh38
NC_000005.9:g.131705899_131705902del , CM000667.1:g.131705899_131705902del	GRCh37
NC_000005.8:g.131733798_131733801del	NCBI36
NG_008982.1:g.5499_5502del
NG_008982.2:g.5504_5507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.235_238del	ENSP00000388838.2:p.His79AlafsTer?
ENST00000435065.7:c.235_238del	ENSP00000402760.2:p.His79AlafsTer?
ENST00000448810.6:c.235_238del	ENSP00000401860.2:p.His79AlafsTer?
ENST00000686757.1:c.235_238del	ENSP00000510721.1:p.His79AlafsTer?
ENST00000687740.1:n.369_372del
ENST00000689271.1:c.235_238del	ENSP00000510797.1:p.His79AlafsTer?
ENST00000690900.1:c.235_238del	ENSP00000510703.1:p.His79AlafsTer?
ENST00000692413.1:c.235_238del	ENSP00000509374.1:p.His79AlafsTer?
ENST00000692825.1:c.235_238del	ENSP00000509447.1:p.His79AlafsTer?
ENST00000693308.1:c.235_238del	ENSP00000509770.1:p.His79AlafsTer?
ENST00000693763.1:n.369_372del
ENST00000245407.8:c.235_238del MANE Select	ENSP00000245407.3:p.His79AlafsTer?
ENST00000245407.7:c.235_238del	ENSP00000245407.3:p.His79AlafsTer?
ENST00000435065.6:c.235_238del	ENSP00000402760.2:p.His79AlafsTer?
ENST00000437841.6:c.235_238del	ENSP00000400553.1:p.His79AlafsTer?
NM_001308122.1:c.235_238del	NP_001295051.1:p.His79AlafsTer?
NM_003060.3:c.235_238del	NP_003051.1:p.His79AlafsTer?
XR_427718.1:n.504_507del
XR_948290.1:n.504_507del
XR_948291.1:n.504_507del
XM_011543590.2:c.-397_-394del	XP_011541892.1:n.-397_-394del
XR_001742215.1:n.504_507del
XR_001742216.1:n.504_507del
XR_427718.2:n.504_507del
XR_948290.2:n.504_507del
XR_948291.2:n.504_507del
NM_003060.4:c.235_238del MANE Select	NP_003051.1:p.His79AlafsTer?
NM_001308122.2:c.235_238del	NP_001295051.1:p.His79AlafsTer?