Canonical Allele Identifier: CA611941251
Gene: PCCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100530108_100530109del , CM000675.2:g.100530108_100530109del GRCh38
NC_000013.10:g.101182362_101182363del , CM000675.1:g.101182362_101182363del GRCh37
NC_000013.9:g.99980363_99980364del NCBI36
NG_008768.1:g.446026_446027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376285.6:c.2129_2130del MANE Select ENSP00000365462.1:p.Val710AlafsTer23
ENST00000636366.1:c.1327_1328del
ENST00000636475.1:c.1644_1645del
ENST00000637657.1:c.1789_1790del
ENST00000647303.1:c.*1613_*1614del ENSP00000495663.1:n.*1613_*1614del
ENST00000376279.7:c.1988_1989del ENSP00000365456.3:p.Val663AlafsTer23
ENST00000376285.5:c.2129_2130del ENSP00000365462.1:p.Val710AlafsTer23
ENST00000376286.8:c.2051_2052del ENSP00000365463.4:p.Val684AlafsTer23
ENST00000428969.1:c.278_279del ENSP00000399413.1:p.Val93AlafsTer23
ENST00000458283.5:c.345_346del
NM_000282.3:c.2129_2130del NP_000273.2:p.Val710AlafsTer23
NM_001127692.2:c.2051_2052del NP_001121164.1:p.Val684AlafsTer23
NM_001178004.1:c.1988_1989del NP_001171475.1:p.Val663AlafsTer23
XR_931615.1:n.1986_1987del
NM_001352605.1:c.2075_2076del NP_001339534.1:p.Val692AlafsTer23
NM_001352606.1:c.1985_1986del NP_001339535.1:p.Val662AlafsTer23
NM_001352607.1:c.1910_1911del NP_001339536.1:p.Val637AlafsTer23
NM_001352608.1:c.1907_1908del NP_001339537.1:p.Val636AlafsTer23
NM_001352610.1:c.1184_1185del NP_001339539.1:p.Val395AlafsTer23
NM_001352611.1:c.1130_1131del NP_001339540.1:p.Val377AlafsTer23
NM_001352612.1:c.1040_1041del NP_001339541.1:p.Val347AlafsTer23
NR_148027.1:n.2178_2179del
NR_148028.1:n.2216_2217del
NR_148029.1:n.2138_2139del
NR_148030.1:n.2319_2320del
NR_148031.1:n.2132_2133del
XM_017020609.1:c.2030_2031del XP_016876098.1:p.Val677AlafsTer23
XM_017020613.1:c.*57_*58del XP_016876102.1:n.*57_*58del
XR_001749567.1:n.2309_2310del
XR_001749568.1:n.2396_2397del
XR_001749569.1:n.2255_2256del
XR_001749576.1:n.1866_1867del
XR_001749577.1:n.1763_1764del
NM_000282.4:c.2129_2130del MANE Select NP_000273.2:p.Val710AlafsTer23
NM_001352605.2:c.2075_2076del NP_001339534.1:p.Val692AlafsTer23
NM_001352606.2:c.1985_1986del NP_001339535.1:p.Val662AlafsTer23
NM_001352607.2:c.1910_1911del NP_001339536.1:p.Val637AlafsTer23
NM_001352608.2:c.1907_1908del NP_001339537.1:p.Val636AlafsTer23
NM_001352610.2:c.1184_1185del NP_001339539.1:p.Val395AlafsTer23
NM_001352611.2:c.1130_1131del NP_001339540.1:p.Val377AlafsTer23
NM_001352612.2:c.1040_1041del NP_001339541.1:p.Val347AlafsTer23
NR_148027.2:n.2100_2101del
NR_148028.2:n.2138_2139del
NR_148029.2:n.2060_2061del
NR_148030.2:n.2241_2242del
NR_148031.2:n.2054_2055del
NM_001127692.3:c.2051_2052del NP_001121164.1:p.Val684AlafsTer23
NM_001178004.2:c.1988_1989del NP_001171475.1:p.Val663AlafsTer23