Canonical Allele Identifier: CA2499217972

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87374885_87374886dup , CM000667.2:g.87374885_87374886dup GRCh38
NC_000005.9:g.86670702_86670703dup , CM000667.1:g.86670702_86670703dup GRCh37
NC_000005.8:g.86706458_86706459dup NCBI36
NG_011650.1:g.111552_111553dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.1980_1981dup (RASA1) MANE Select ENSP00000274376.6:p.Lys661IlefsTer18
ENST00000645953.1:c.*90+17885_*90+17886dup (CCNH) ENSP00000494460.1:n.*90+17885_*90+17886dup
ENST00000274376.10:c.1980_1981dup (RASA1) ENSP00000274376.6:p.Lys661IlefsTer18
ENST00000456692.6:c.1449_1450dup (RASA1) ENSP00000411221.2:p.Lys484IlefsTer18
ENST00000506290.1:c.1482_1483dup (RASA1) ENSP00000420905.1:p.Lys495IlefsTer18
ENST00000512763.5:c.1479_1480dup (RASA1) ENSP00000422008.1:p.Lys494IlefsTer18
ENST00000515800.6:c.*505_*506dup (RASA1) ENSP00000423395.2:n.*505_*506dup
NM_002890.2:c.1980_1981dup (RASA1) NP_002881.1:p.Lys661IlefsTer18
NM_022650.2:c.1449_1450dup (RASA1) NP_072179.1:p.Lys484IlefsTer18
XM_011543525.1:c.1980_1981dup (RASA1) XP_011541827.1:p.Lys661IlefsTer18
XM_011543526.1:c.1980_1981dup (RASA1) XP_011541828.1:p.Lys661IlefsTer18
XR_948544.1:n.742+760_742+761dup
NM_001364075.1:c.933+20159_933+20160dup (CCNH) NP_001351004.1:n.933+20159_933+20160dup
NR_157068.1:n.1447+17885_1447+17886dup (CCNH)
NR_157069.1:n.1040+17885_1040+17886dup (CCNH)
NR_157070.1:n.1204+17885_1204+17886dup (CCNH)
XM_011543525.2:c.1980_1981dup (RASA1) XP_011541827.1:p.Lys661IlefsTer18
NM_001364075.2:c.933+20159_933+20160dup (CCNH) NP_001351004.1:n.933+20159_933+20160dup
NM_002890.3:c.1980_1981dup (RASA1) MANE Select NP_002881.1:p.Lys661IlefsTer18
NR_157068.2:n.1447+17885_1447+17886dup (CCNH)
NR_157069.2:n.1040+17885_1040+17886dup (CCNH)
NR_157070.2:n.1204+17885_1204+17886dup (CCNH)
NM_022650.3:c.1449_1450dup (RASA1) NP_072179.1:p.Lys484IlefsTer18