Canonical Allele Identifier: CA2623562402

Gene: PCCA

Linked Data

• gnomAD v4: 13-100515541-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515543del , CM000675.2:g.100515543del	GRCh38
NC_000013.10:g.101167797del , CM000675.1:g.101167797del	GRCh37
NC_000013.9:g.99965798del	NCBI36
NG_008768.1:g.431461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2016del MANE Select	ENSP00000365462.1:p.Val673SerfsTer9
ENST00000636366.1:c.1214del
ENST00000636475.1:c.1531del
ENST00000637657.1:c.1676del
ENST00000647303.1:c.*1500del	ENSP00000495663.1:n.*1500del
ENST00000376279.7:c.1900-12132del	ENSP00000365456.3:n.1900-12132del
ENST00000376285.5:c.2016del	ENSP00000365462.1:p.Val673SerfsTer9
ENST00000376286.8:c.1938del	ENSP00000365463.4:p.Val647SerfsTer9
ENST00000428969.1:c.117del	ENSP00000399413.1:p.Val40SerfsTer15
ENST00000458283.5:c.257-12132del
NM_000282.3:c.2016del	NP_000273.2:p.Val673SerfsTer9
NM_001127692.2:c.1938del	NP_001121164.1:p.Val647SerfsTer9
NM_001178004.1:c.1900-12132del	NP_001171475.1:n.1900-12132del
XR_931615.1:n.1898-12132del
NM_001352605.1:c.1962del	NP_001339534.1:p.Val655SerfsTer9
NM_001352606.1:c.1872del	NP_001339535.1:p.Val625SerfsTer9
NM_001352607.1:c.1822-12132del	NP_001339536.1:n.1822-12132del
NM_001352608.1:c.1794del	NP_001339537.1:p.Val599SerfsTer9
NM_001352610.1:c.1071del	NP_001339539.1:p.Val358SerfsTer9
NM_001352611.1:c.1017del	NP_001339540.1:p.Val340SerfsTer9
NM_001352612.1:c.927del	NP_001339541.1:p.Val310SerfsTer9
NR_148027.1:n.2090-12132del
NR_148028.1:n.2103del
NR_148029.1:n.2025del
NR_148030.1:n.2206del
NR_148031.1:n.2019del
XM_017020609.1:c.1917del	XP_016876098.1:p.Val640SerfsTer9
XM_017020612.1:c.*49del	XP_016876101.1:n.*49del
XM_017020613.1:c.1979-12132del	XP_016876102.1:n.1979-12132del
XR_001749567.1:n.2196del
XR_001749568.1:n.2283del
XR_001749569.1:n.2167-12132del
XR_001749574.1:n.2052del
XR_001749576.1:n.1753del
XR_001749577.1:n.1650del
NM_000282.4:c.2016del MANE Select	NP_000273.2:p.Val673SerfsTer9
NM_001352605.2:c.1962del	NP_001339534.1:p.Val655SerfsTer9
NM_001352606.2:c.1872del	NP_001339535.1:p.Val625SerfsTer9
NM_001352607.2:c.1822-12132del	NP_001339536.1:n.1822-12132del
NM_001352608.2:c.1794del	NP_001339537.1:p.Val599SerfsTer9
NM_001352610.2:c.1071del	NP_001339539.1:p.Val358SerfsTer9
NM_001352611.2:c.1017del	NP_001339540.1:p.Val340SerfsTer9
NM_001352612.2:c.927del	NP_001339541.1:p.Val310SerfsTer9
NR_148027.2:n.2012-12132del
NR_148028.2:n.2025del
NR_148029.2:n.1947del
NR_148030.2:n.2128del
NR_148031.2:n.1941del
NM_001127692.3:c.1938del	NP_001121164.1:p.Val647SerfsTer9
NM_001178004.2:c.1900-12132del	NP_001171475.1:n.1900-12132del