Canonical Allele Identifier: CA658796183

Gene: OBSL1 INHA

Linked Data

• ClinVar Variation Id: 523511
• ClinVar RCV Id: RCV000001103 ; RCV000626927
• dbSNP Id: rs1553538488
• MyVariant Identifiers: chr2:g.220435265dup (hg19) ; chr2:g.219570543dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219570548dup , CM000664.2:g.219570548dup	GRCh38
NC_000002.11:g.220435270dup , CM000664.1:g.220435270dup	GRCh37
NC_000002.10:g.220143514dup	NCBI36
NG_016977.1:g.6004dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000404537.6:c.690dup (OBSL1) MANE Select	ENSP00000385636.1:p.Glu231ArgfsTer23
ENST00000289656.3:c.-228+851dup (OBSL1)	ENSP00000289656.3:n.-228+851dup
ENST00000373873.8:c.690dup (OBSL1)	ENSP00000362980.4:p.Glu231ArgfsTer23
ENST00000373876.5:c.690dup (OBSL1)	ENSP00000362983.1:p.Glu231ArgfsTer23
ENST00000404537.5:c.690dup (OBSL1)	ENSP00000385636.1:p.Glu231ArgfsTer23
ENST00000465149.1:n.197dup (OBSL1)
ENST00000465589.1:n.249dup (OBSL1)
ENST00000489456.1:n.285+1102dup (INHA)
ENST00000491370.1:n.499dup (OBSL1)
ENST00000603926.5:c.690dup (OBSL1)	ENSP00000474519.1:p.Glu231ArgfsTer23
NM_001173408.1:c.690dup (OBSL1)	NP_001166879.1:p.Glu231ArgfsTer23
NM_001173431.1:c.690dup (OBSL1)	NP_001166902.1:p.Glu231ArgfsTer23
NM_015311.2:c.690dup (OBSL1)	NP_056126.1:p.Glu231ArgfsTer23
XM_005246424.3:c.690dup (OBSL1)	XP_005246481.1:p.Glu231ArgfsTer23
XM_005246427.3:c.690dup (OBSL1)	XP_005246484.1:p.Glu231ArgfsTer23
XM_011510854.1:c.690dup (OBSL1)	XP_011509156.1:p.Glu231ArgfsTer23
XM_011510855.1:c.690dup (OBSL1)	XP_011509157.1:p.Glu231ArgfsTer23
XM_011510856.1:c.690dup (OBSL1)	XP_011509158.1:p.Glu231ArgfsTer23
XM_011510857.1:c.690dup (OBSL1)	XP_011509159.1:p.Glu231ArgfsTer23
XM_011510858.1:c.690dup (OBSL1)	XP_011509160.1:p.Glu231ArgfsTer23
XM_011510859.1:c.690dup (OBSL1)	XP_011509161.1:p.Glu231ArgfsTer23
XM_011510860.1:c.690dup (OBSL1)	XP_011509162.1:p.Glu231ArgfsTer23
XM_011510861.1:c.690dup (OBSL1)	XP_011509163.1:p.Glu231ArgfsTer23
XM_011510862.1:c.690dup (OBSL1)	XP_011509164.1:p.Glu231ArgfsTer23
XM_011510863.1:c.690dup (OBSL1)	XP_011509165.1:p.Glu231ArgfsTer23
XM_011510864.1:c.690dup (OBSL1)	XP_011509166.1:p.Glu231ArgfsTer23
XM_011510865.1:c.690dup (OBSL1)	XP_011509167.1:p.Glu231ArgfsTer23
XM_011510866.1:c.690dup (OBSL1)	XP_011509168.1:p.Glu231ArgfsTer23
XM_011510857.2:c.690dup (OBSL1)	XP_011509159.1:p.Glu231ArgfsTer23
XM_011510863.3:c.690dup (OBSL1)	XP_011509165.1:p.Glu231ArgfsTer23
XM_011510864.2:c.690dup (OBSL1)	XP_011509166.1:p.Glu231ArgfsTer23
XM_011510865.2:c.690dup (OBSL1)	XP_011509167.1:p.Glu231ArgfsTer23
XM_011510866.2:c.690dup (OBSL1)	XP_011509168.1:p.Glu231ArgfsTer23
XM_017003696.2:c.690dup (OBSL1)	XP_016859185.1:p.Glu231ArgfsTer23
XM_017003697.2:c.690dup (OBSL1)	XP_016859186.1:p.Glu231ArgfsTer23
XM_017003698.1:c.690dup (OBSL1)	XP_016859187.1:p.Glu231ArgfsTer23
XM_017003699.1:c.690dup (OBSL1)	XP_016859188.1:p.Glu231ArgfsTer23
XM_017003700.1:c.690dup (OBSL1)	XP_016859189.1:p.Glu231ArgfsTer23
NM_015311.3:c.690dup (OBSL1) MANE Select	NP_056126.1:p.Glu231ArgfsTer23
NM_001173408.2:c.690dup (OBSL1)	NP_001166879.1:p.Glu231ArgfsTer23
NM_001173431.2:c.690dup (OBSL1)	NP_001166902.1:p.Glu231ArgfsTer23