Canonical Allele Identifier: CA912974387

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.100809565_100809566del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100157311_100157312del , CM000675.2:g.100157311_100157312del	GRCh38
NC_000013.10:g.100809565_100809566del , CM000675.1:g.100809565_100809566del	GRCh37
NC_000013.9:g.99607566_99607567del	NCBI36
NG_008768.1:g.73229_73230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.439_440del MANE Select	ENSP00000365462.1:p.Ser147ArgfsTer20
ENST00000636366.1:c.318_319del
ENST00000636420.1:c.318_319del
ENST00000636475.1:c.318_319del
ENST00000637358.1:c.318_319del
ENST00000637657.1:c.318_319del
ENST00000647303.1:c.*287_*288del	ENSP00000495663.1:n.*287_*288del
ENST00000376279.7:c.439_440del	ENSP00000365456.3:p.Ser147ArgfsTer20
ENST00000376285.5:c.439_440del	ENSP00000365462.1:p.Ser147ArgfsTer20
ENST00000376286.8:c.361_362del	ENSP00000365463.4:p.Ser121ArgfsTer20
ENST00000485946.1:n.807_808del
NM_000282.3:c.439_440del	NP_000273.2:p.Ser147ArgfsTer20
NM_001127692.2:c.361_362del	NP_001121164.1:p.Ser121ArgfsTer20
NM_001178004.1:c.439_440del	NP_001171475.1:p.Ser147ArgfsTer20
XM_005254059.2:c.439_440del	XP_005254116.1:p.Ser147ArgfsTer20
XM_011521093.1:c.439_440del	XP_011519395.1:p.Ser147ArgfsTer20
XR_931615.1:n.540_541del
XR_931616.1:n.540_541del
NM_001352605.1:c.439_440del	NP_001339534.1:p.Ser147ArgfsTer20
NM_001352606.1:c.439_440del	NP_001339535.1:p.Ser147ArgfsTer20
NM_001352607.1:c.361_362del	NP_001339536.1:p.Ser121ArgfsTer20
NM_001352608.1:c.361_362del	NP_001339537.1:p.Ser121ArgfsTer20
NM_001352609.1:c.439_440del	NP_001339538.1:p.Ser147ArgfsTer20
NM_001352610.1:c.-428_-427del	NP_001339539.1:n.-428_-427del
NM_001352611.1:c.-428_-427del	NP_001339540.1:n.-428_-427del
NM_001352612.1:c.-428_-427del	NP_001339541.1:n.-428_-427del
NR_148027.1:n.545_546del
NR_148028.1:n.545_546del
NR_148029.1:n.467_468del
NR_148030.1:n.545_546del
NR_148031.1:n.545_546del
XM_017020605.1:c.439_440del	XP_016876094.1:p.Ser147ArgfsTer20
XM_017020606.1:c.361_362del	XP_016876095.1:p.Ser121ArgfsTer20
XM_017020607.1:c.340_341del	XP_016876096.1:p.Ser114ArgfsTer20
XM_017020609.1:c.340_341del	XP_016876098.1:p.Ser114ArgfsTer20
XM_017020611.1:c.439_440del	XP_016876100.1:p.Ser147ArgfsTer20
XM_017020612.1:c.439_440del	XP_016876101.1:p.Ser147ArgfsTer20
XM_017020613.1:c.439_440del	XP_016876102.1:p.Ser147ArgfsTer20
XM_017020615.1:c.439_440del	XP_016876104.1:p.Ser147ArgfsTer20
XM_017020616.1:c.439_440del	XP_016876105.1:p.Ser147ArgfsTer20
XR_001749567.1:n.540_541del
XR_001749568.1:n.540_541del
XR_001749569.1:n.540_541del
XR_001749574.1:n.391_392del
XR_001749576.1:n.540_541del
XR_001749577.1:n.540_541del
NM_000282.4:c.439_440del MANE Select	NP_000273.2:p.Ser147ArgfsTer20
NM_001352605.2:c.439_440del	NP_001339534.1:p.Ser147ArgfsTer20
NM_001352606.2:c.439_440del	NP_001339535.1:p.Ser147ArgfsTer20
NM_001352607.2:c.361_362del	NP_001339536.1:p.Ser121ArgfsTer20
NM_001352608.2:c.361_362del	NP_001339537.1:p.Ser121ArgfsTer20
NM_001352609.2:c.439_440del	NP_001339538.1:p.Ser147ArgfsTer20
NM_001352610.2:c.-428_-427del	NP_001339539.1:n.-428_-427del
NM_001352611.2:c.-428_-427del	NP_001339540.1:n.-428_-427del
NM_001352612.2:c.-428_-427del	NP_001339541.1:n.-428_-427del
NR_148027.2:n.467_468del
NR_148028.2:n.467_468del
NR_148029.2:n.389_390del
NR_148030.2:n.467_468del
NR_148031.2:n.467_468del
NM_001127692.3:c.361_362del	NP_001121164.1:p.Ser121ArgfsTer20
NM_001178004.2:c.439_440del	NP_001171475.1:p.Ser147ArgfsTer20