Canonical Allele Identifier: CA2114131289

Gene: PCCA

Linked Data

• dbSNP Id: rs2088275913
• gnomAD v4: 13-100530002-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530005_100530006del , CM000675.2:g.100530005_100530006del	GRCh38
NC_000013.10:g.101182259_101182260del , CM000675.1:g.101182259_101182260del	GRCh37
NC_000013.9:g.99980260_99980261del	NCBI36
NG_008768.1:g.445923_445924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2119-93_2119-92del MANE Select	ENSP00000365462.1:n.2119-93_2119-92del
ENST00000636366.1:c.1317-93_1317-92del
ENST00000636475.1:c.1634-93_1634-92del
ENST00000637657.1:c.1779-93_1779-92del
ENST00000647303.1:c.*1603-93_*1603-92del	ENSP00000495663.1:n.*1603-93_*1603-92del
ENST00000376279.7:c.1978-93_1978-92del	ENSP00000365456.3:n.1978-93_1978-92del
ENST00000376285.5:c.2119-93_2119-92del	ENSP00000365462.1:n.2119-93_2119-92del
ENST00000376286.8:c.2041-93_2041-92del	ENSP00000365463.4:n.2041-93_2041-92del
ENST00000428969.1:c.268-93_268-92del	ENSP00000399413.1:n.268-93_268-92del
ENST00000458283.5:c.335-93_335-92del
NM_000282.3:c.2119-93_2119-92del	NP_000273.2:n.2119-93_2119-92del
NM_001127692.2:c.2041-93_2041-92del	NP_001121164.1:n.2041-93_2041-92del
NM_001178004.1:c.1978-93_1978-92del	NP_001171475.1:n.1978-93_1978-92del
XR_931615.1:n.1976-93_1976-92del
NM_001352605.1:c.2065-93_2065-92del	NP_001339534.1:n.2065-93_2065-92del
NM_001352606.1:c.1975-93_1975-92del	NP_001339535.1:n.1975-93_1975-92del
NM_001352607.1:c.1900-93_1900-92del	NP_001339536.1:n.1900-93_1900-92del
NM_001352608.1:c.1897-93_1897-92del	NP_001339537.1:n.1897-93_1897-92del
NM_001352610.1:c.1174-93_1174-92del	NP_001339539.1:n.1174-93_1174-92del
NM_001352611.1:c.1120-93_1120-92del	NP_001339540.1:n.1120-93_1120-92del
NM_001352612.1:c.1030-93_1030-92del	NP_001339541.1:n.1030-93_1030-92del
NR_148027.1:n.2168-93_2168-92del
NR_148028.1:n.2206-93_2206-92del
NR_148029.1:n.2128-93_2128-92del
NR_148030.1:n.2309-93_2309-92del
NR_148031.1:n.2122-93_2122-92del
XM_017020609.1:c.2020-93_2020-92del	XP_016876098.1:n.2020-93_2020-92del
XM_017020613.1:c.*47-93_*47-92del	XP_016876102.1:n.*47-93_*47-92del
XR_001749567.1:n.2299-93_2299-92del
XR_001749568.1:n.2386-93_2386-92del
XR_001749569.1:n.2245-93_2245-92del
XR_001749576.1:n.1856-93_1856-92del
XR_001749577.1:n.1753-93_1753-92del
NM_000282.4:c.2119-93_2119-92del MANE Select	NP_000273.2:n.2119-93_2119-92del
NM_001352605.2:c.2065-93_2065-92del	NP_001339534.1:n.2065-93_2065-92del
NM_001352606.2:c.1975-93_1975-92del	NP_001339535.1:n.1975-93_1975-92del
NM_001352607.2:c.1900-93_1900-92del	NP_001339536.1:n.1900-93_1900-92del
NM_001352608.2:c.1897-93_1897-92del	NP_001339537.1:n.1897-93_1897-92del
NM_001352610.2:c.1174-93_1174-92del	NP_001339539.1:n.1174-93_1174-92del
NM_001352611.2:c.1120-93_1120-92del	NP_001339540.1:n.1120-93_1120-92del
NM_001352612.2:c.1030-93_1030-92del	NP_001339541.1:n.1030-93_1030-92del
NR_148027.2:n.2090-93_2090-92del
NR_148028.2:n.2128-93_2128-92del
NR_148029.2:n.2050-93_2050-92del
NR_148030.2:n.2231-93_2231-92del
NR_148031.2:n.2044-93_2044-92del
NM_001127692.3:c.2041-93_2041-92del	NP_001121164.1:n.2041-93_2041-92del
NM_001178004.2:c.1978-93_1978-92del	NP_001171475.1:n.1978-93_1978-92del