Canonical Allele Identifier: CA2623555129

Gene: PCCA

Linked Data

• gnomAD v4: 13-100103029-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100103030_100103031del , CM000675.2:g.100103030_100103031del	GRCh38
NC_000013.10:g.100755284_100755285del , CM000675.1:g.100755284_100755285del	GRCh37
NC_000013.9:g.99553285_99553286del	NCBI36
NG_008768.1:g.18948_18949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.183+70_183+71del MANE Select	ENSP00000365462.1:n.183+70_183+71del
ENST00000636366.1:c.62+70_62+71del
ENST00000636420.1:c.62+70_62+71del
ENST00000636475.1:c.62+70_62+71del
ENST00000637358.1:c.62+70_62+71del
ENST00000637657.1:c.62+70_62+71del
ENST00000647303.1:c.183+70_183+71del	ENSP00000495663.1:n.183+70_183+71del
ENST00000376279.7:c.183+70_183+71del	ENSP00000365456.3:n.183+70_183+71del
ENST00000376285.5:c.183+70_183+71del	ENSP00000365462.1:n.183+70_183+71del
ENST00000376286.8:c.106-8811_106-8810del	ENSP00000365463.4:n.106-8811_106-8810del
NM_000282.3:c.183+70_183+71del	NP_000273.2:n.183+70_183+71del
NM_001127692.2:c.106-8811_106-8810del	NP_001121164.1:n.106-8811_106-8810del
NM_001178004.1:c.183+70_183+71del	NP_001171475.1:n.183+70_183+71del
XM_005254059.2:c.183+70_183+71del	XP_005254116.1:n.183+70_183+71del
XM_011521093.1:c.183+70_183+71del	XP_011519395.1:n.183+70_183+71del
XR_931615.1:n.284+70_284+71del
XR_931616.1:n.284+70_284+71del
NM_001352605.1:c.183+70_183+71del	NP_001339534.1:n.183+70_183+71del
NM_001352606.1:c.183+70_183+71del	NP_001339535.1:n.183+70_183+71del
NM_001352607.1:c.106-8811_106-8810del	NP_001339536.1:n.106-8811_106-8810del
NM_001352608.1:c.106-8811_106-8810del	NP_001339537.1:n.106-8811_106-8810del
NM_001352609.1:c.183+70_183+71del	NP_001339538.1:n.183+70_183+71del
NM_001352610.1:c.-684+70_-684+71del	NP_001339539.1:n.-684+70_-684+71del
NM_001352611.1:c.-684+70_-684+71del	NP_001339540.1:n.-684+70_-684+71del
NM_001352612.1:c.-684+70_-684+71del	NP_001339541.1:n.-684+70_-684+71del
NR_148027.1:n.289+70_289+71del
NR_148028.1:n.289+70_289+71del
NR_148029.1:n.212-8811_212-8810del
NR_148030.1:n.289+70_289+71del
NR_148031.1:n.289+70_289+71del
XM_017020605.1:c.183+70_183+71del	XP_016876094.1:n.183+70_183+71del
XM_017020606.1:c.106-8811_106-8810del	XP_016876095.1:n.106-8811_106-8810del
XM_017020607.1:c.84+70_84+71del	XP_016876096.1:n.84+70_84+71del
XM_017020609.1:c.84+70_84+71del	XP_016876098.1:n.84+70_84+71del
XM_017020611.1:c.183+70_183+71del	XP_016876100.1:n.183+70_183+71del
XM_017020612.1:c.183+70_183+71del	XP_016876101.1:n.183+70_183+71del
XM_017020613.1:c.183+70_183+71del	XP_016876102.1:n.183+70_183+71del
XM_017020615.1:c.183+70_183+71del	XP_016876104.1:n.183+70_183+71del
XM_017020616.1:c.183+70_183+71del	XP_016876105.1:n.183+70_183+71del
XR_001749567.1:n.284+70_284+71del
XR_001749568.1:n.284+70_284+71del
XR_001749569.1:n.284+70_284+71del
XR_001749574.1:n.136-8811_136-8810del
XR_001749576.1:n.284+70_284+71del
XR_001749577.1:n.284+70_284+71del
NM_000282.4:c.183+70_183+71del MANE Select	NP_000273.2:n.183+70_183+71del
NM_001352605.2:c.183+70_183+71del	NP_001339534.1:n.183+70_183+71del
NM_001352606.2:c.183+70_183+71del	NP_001339535.1:n.183+70_183+71del
NM_001352607.2:c.106-8811_106-8810del	NP_001339536.1:n.106-8811_106-8810del
NM_001352608.2:c.106-8811_106-8810del	NP_001339537.1:n.106-8811_106-8810del
NM_001352609.2:c.183+70_183+71del	NP_001339538.1:n.183+70_183+71del
NM_001352610.2:c.-684+70_-684+71del	NP_001339539.1:n.-684+70_-684+71del
NM_001352611.2:c.-684+70_-684+71del	NP_001339540.1:n.-684+70_-684+71del
NM_001352612.2:c.-684+70_-684+71del	NP_001339541.1:n.-684+70_-684+71del
NR_148027.2:n.211+70_211+71del
NR_148028.2:n.211+70_211+71del
NR_148029.2:n.134-8811_134-8810del
NR_148030.2:n.211+70_211+71del
NR_148031.2:n.211+70_211+71del
NM_001127692.3:c.106-8811_106-8810del	NP_001121164.1:n.106-8811_106-8810del
NM_001178004.2:c.183+70_183+71del	NP_001171475.1:n.183+70_183+71del