Canonical Allele Identifier: CA2575447035

Gene: PCCA

Linked Data

• gnomAD v4: 13-100530071-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530072del , CM000675.2:g.100530072del	GRCh38
NC_000013.10:g.101182326del , CM000675.1:g.101182326del	GRCh37
NC_000013.9:g.99980327del	NCBI36
NG_008768.1:g.445990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2119-26del MANE Select	ENSP00000365462.1:n.2119-26del
ENST00000636366.1:c.1317-26del
ENST00000636475.1:c.1634-26del
ENST00000637657.1:c.1779-26del
ENST00000647303.1:c.*1603-26del	ENSP00000495663.1:n.*1603-26del
ENST00000376279.7:c.1978-26del	ENSP00000365456.3:n.1978-26del
ENST00000376285.5:c.2119-26del	ENSP00000365462.1:n.2119-26del
ENST00000376286.8:c.2041-26del	ENSP00000365463.4:n.2041-26del
ENST00000428969.1:c.268-26del	ENSP00000399413.1:n.268-26del
ENST00000458283.5:c.335-26del
NM_000282.3:c.2119-26del	NP_000273.2:n.2119-26del
NM_001127692.2:c.2041-26del	NP_001121164.1:n.2041-26del
NM_001178004.1:c.1978-26del	NP_001171475.1:n.1978-26del
XR_931615.1:n.1976-26del
NM_001352605.1:c.2065-26del	NP_001339534.1:n.2065-26del
NM_001352606.1:c.1975-26del	NP_001339535.1:n.1975-26del
NM_001352607.1:c.1900-26del	NP_001339536.1:n.1900-26del
NM_001352608.1:c.1897-26del	NP_001339537.1:n.1897-26del
NM_001352610.1:c.1174-26del	NP_001339539.1:n.1174-26del
NM_001352611.1:c.1120-26del	NP_001339540.1:n.1120-26del
NM_001352612.1:c.1030-26del	NP_001339541.1:n.1030-26del
NR_148027.1:n.2168-26del
NR_148028.1:n.2206-26del
NR_148029.1:n.2128-26del
NR_148030.1:n.2309-26del
NR_148031.1:n.2122-26del
XM_017020609.1:c.2020-26del	XP_016876098.1:n.2020-26del
XM_017020613.1:c.*47-26del	XP_016876102.1:n.*47-26del
XR_001749567.1:n.2299-26del
XR_001749568.1:n.2386-26del
XR_001749569.1:n.2245-26del
XR_001749576.1:n.1856-26del
XR_001749577.1:n.1753-26del
NM_000282.4:c.2119-26del MANE Select	NP_000273.2:n.2119-26del
NM_001352605.2:c.2065-26del	NP_001339534.1:n.2065-26del
NM_001352606.2:c.1975-26del	NP_001339535.1:n.1975-26del
NM_001352607.2:c.1900-26del	NP_001339536.1:n.1900-26del
NM_001352608.2:c.1897-26del	NP_001339537.1:n.1897-26del
NM_001352610.2:c.1174-26del	NP_001339539.1:n.1174-26del
NM_001352611.2:c.1120-26del	NP_001339540.1:n.1120-26del
NM_001352612.2:c.1030-26del	NP_001339541.1:n.1030-26del
NR_148027.2:n.2090-26del
NR_148028.2:n.2128-26del
NR_148029.2:n.2050-26del
NR_148030.2:n.2231-26del
NR_148031.2:n.2044-26del
NM_001127692.3:c.2041-26del	NP_001121164.1:n.2041-26del
NM_001178004.2:c.1978-26del	NP_001171475.1:n.1978-26del