Canonical Allele Identifier: CA2697546461

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2728788
• ClinVar RCV Id: RCV003508677

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370181_132370212dup , CM000667.2:g.132370181_132370212dup	GRCh38
NC_000005.9:g.131705873_131705904dup , CM000667.1:g.131705873_131705904dup	GRCh37
NC_000005.8:g.131733772_131733803dup	NCBI36
NG_008982.1:g.5473_5504dup
NG_008982.2:g.5478_5509dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.209_240dup	ENSP00000388838.2:p.Cys81GlyfsTer?
ENST00000435065.7:c.209_240dup	ENSP00000402760.2:p.Cys81GlyfsTer?
ENST00000448810.6:c.209_240dup	ENSP00000401860.2:p.Cys81GlyfsTer?
ENST00000686757.1:c.209_240dup	ENSP00000510721.1:p.Cys81GlyfsTer?
ENST00000687740.1:n.343_374dup
ENST00000689271.1:c.209_240dup	ENSP00000510797.1:p.Cys81GlyfsTer?
ENST00000690900.1:c.209_240dup	ENSP00000510703.1:p.Cys81GlyfsTer?
ENST00000692413.1:c.209_240dup	ENSP00000509374.1:p.Cys81GlyfsTer?
ENST00000692825.1:c.209_240dup	ENSP00000509447.1:p.Cys81GlyfsTer?
ENST00000693308.1:c.209_240dup	ENSP00000509770.1:p.Cys81GlyfsTer?
ENST00000693763.1:n.343_374dup
ENST00000245407.8:c.209_240dup MANE Select	ENSP00000245407.3:p.Cys81GlyfsTer?
ENST00000245407.7:c.209_240dup	ENSP00000245407.3:p.Cys81GlyfsTer?
ENST00000435065.6:c.209_240dup	ENSP00000402760.2:p.Cys81GlyfsTer?
ENST00000437841.6:c.209_240dup	ENSP00000400553.1:p.Cys81GlyfsTer?
NM_001308122.1:c.209_240dup	NP_001295051.1:p.Cys81GlyfsTer?
NM_003060.3:c.209_240dup	NP_003051.1:p.Cys81GlyfsTer?
XR_427718.1:n.478_509dup
XR_948290.1:n.478_509dup
XR_948291.1:n.478_509dup
XM_011543590.2:c.-423_-392dup	XP_011541892.1:n.-423_-392dup
XR_001742215.1:n.478_509dup
XR_001742216.1:n.478_509dup
XR_427718.2:n.478_509dup
XR_948290.2:n.478_509dup
XR_948291.2:n.478_509dup
NM_003060.4:c.209_240dup MANE Select	NP_003051.1:p.Cys81GlyfsTer?
NM_001308122.2:c.209_240dup	NP_001295051.1:p.Cys81GlyfsTer?