Canonical Allele Identifier: CA2695204764

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87363387_87363388del , CM000667.2:g.87363387_87363388del GRCh38
NC_000005.9:g.86659204_86659205del , CM000667.1:g.86659204_86659205del GRCh37
NC_000005.8:g.86694960_86694961del NCBI36
NG_011650.1:g.100054_100055del

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.1493_1494del (RASA1) MANE Select ENSP00000274376.6:p.Glu498GlyfsTer2
ENST00000645953.1:c.*90+29384_*90+29385del (CCNH) ENSP00000494460.1:n.*90+29384_*90+29385de...
ENST00000274376.10:c.1493_1494del (RASA1) ENSP00000274376.6:p.Glu498GlyfsTer2
ENST00000456692.6:c.962_963del (RASA1) ENSP00000411221.2:p.Glu321GlyfsTer2
ENST00000506290.1:c.995_996del (RASA1) ENSP00000420905.1:p.Glu332GlyfsTer2
ENST00000509953.1:n.596_597del (RASA1)
ENST00000512763.5:c.992_993del (RASA1) ENSP00000422008.1:p.Glu331GlyfsTer2
ENST00000515800.6:c.1493_1494del (RASA1) ENSP00000423395.2:p.Glu498GlyfsTer2
NM_002890.2:c.1493_1494del (RASA1) NP_002881.1:p.Glu498GlyfsTer2
NM_022650.2:c.962_963del (RASA1) NP_072179.1:p.Glu321GlyfsTer2
XM_011543525.1:c.1493_1494del (RASA1) XP_011541827.1:p.Glu498GlyfsTer2
XM_011543526.1:c.1493_1494del (RASA1) XP_011541828.1:p.Glu498GlyfsTer2
XM_011543527.1:c.1493_1494del (RASA1) XP_011541829.1:p.Glu498GlyfsTer2
NM_001364075.1:c.933+31658_933+31659del (CCNH) NP_001351004.1:n.933+31658_933+31659del
NR_157068.1:n.1447+29384_1447+29385del (CCNH)
NR_157069.1:n.1040+29384_1040+29385del (CCNH)
NR_157070.1:n.1204+29384_1204+29385del (CCNH)
XM_011543525.2:c.1493_1494del (RASA1) XP_011541827.1:p.Glu498GlyfsTer2
XM_011543527.3:c.1493_1494del (RASA1) XP_011541829.1:p.Glu498GlyfsTer2
NM_001364075.2:c.933+31658_933+31659del (CCNH) NP_001351004.1:n.933+31658_933+31659del
NM_002890.3:c.1493_1494del (RASA1) MANE Select NP_002881.1:p.Glu498GlyfsTer2
NR_157068.2:n.1447+29384_1447+29385del (CCNH)
NR_157069.2:n.1040+29384_1040+29385del (CCNH)
NR_157070.2:n.1204+29384_1204+29385del (CCNH)
NM_022650.3:c.962_963del (RASA1) NP_072179.1:p.Glu321GlyfsTer2