Canonical Allele Identifier: CA2623558475

Gene: PCCA

Linked Data

• gnomAD v4: 13-100268802-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100268804_100268805del , CM000675.2:g.100268804_100268805del	GRCh38
NC_000013.10:g.100921058_100921059del , CM000675.1:g.100921058_100921059del	GRCh37
NC_000013.9:g.99719059_99719060del	NCBI36
NG_008768.1:g.184722_184723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.914+21_914+22del MANE Select	ENSP00000365462.1:n.914+21_914+22del
ENST00000636366.1:c.793+21_793+22del
ENST00000636420.1:c.793+21_793+22del
ENST00000636475.1:c.793+21_793+22del
ENST00000637657.1:c.793+21_793+22del
ENST00000647303.1:c.*762+21_*762+22del	ENSP00000495663.1:n.*762+21_*762+22del
ENST00000376279.7:c.914+21_914+22del	ENSP00000365456.3:n.914+21_914+22del
ENST00000376285.5:c.914+21_914+22del	ENSP00000365462.1:n.914+21_914+22del
ENST00000376286.8:c.836+21_836+22del	ENSP00000365463.4:n.836+21_836+22del
NM_000282.3:c.914+21_914+22del	NP_000273.2:n.914+21_914+22del
NM_001127692.2:c.836+21_836+22del	NP_001121164.1:n.836+21_836+22del
NM_001178004.1:c.914+21_914+22del	NP_001171475.1:n.914+21_914+22del
XM_005254059.2:c.914+21_914+22del	XP_005254116.1:n.914+21_914+22del
XM_011521093.1:c.914+21_914+22del	XP_011519395.1:n.914+21_914+22del
XR_931615.1:n.1015+21_1015+22del
XR_931616.1:n.1015+21_1015+22del
NM_001352605.1:c.914+21_914+22del	NP_001339534.1:n.914+21_914+22del
NM_001352606.1:c.914+21_914+22del	NP_001339535.1:n.914+21_914+22del
NM_001352607.1:c.836+21_836+22del	NP_001339536.1:n.836+21_836+22del
NM_001352608.1:c.836+21_836+22del	NP_001339537.1:n.836+21_836+22del
NM_001352609.1:c.914+21_914+22del	NP_001339538.1:n.914+21_914+22del
NM_001352610.1:c.-32+21_-32+22del	NP_001339539.1:n.-32+21_-32+22del
NM_001352611.1:c.-32+21_-32+22del	NP_001339540.1:n.-32+21_-32+22del
NM_001352612.1:c.-32+21_-32+22del	NP_001339541.1:n.-32+21_-32+22del
NR_148027.1:n.1020+21_1020+22del
NR_148028.1:n.1020+21_1020+22del
NR_148029.1:n.942+21_942+22del
NR_148030.1:n.1020+21_1020+22del
NR_148031.1:n.1020+21_1020+22del
XM_017020605.1:c.914+21_914+22del	XP_016876094.1:n.914+21_914+22del
XM_017020606.1:c.836+21_836+22del	XP_016876095.1:n.836+21_836+22del
XM_017020607.1:c.815+21_815+22del	XP_016876096.1:n.815+21_815+22del
XM_017020609.1:c.815+21_815+22del	XP_016876098.1:n.815+21_815+22del
XM_017020611.1:c.914+21_914+22del	XP_016876100.1:n.914+21_914+22del
XM_017020612.1:c.914+21_914+22del	XP_016876101.1:n.914+21_914+22del
XM_017020613.1:c.914+21_914+22del	XP_016876102.1:n.914+21_914+22del
XM_017020615.1:c.914+21_914+22del	XP_016876104.1:n.914+21_914+22del
XM_017020616.1:c.914+21_914+22del	XP_016876105.1:n.914+21_914+22del
XR_001749567.1:n.1015+21_1015+22del
XR_001749568.1:n.1015+21_1015+22del
XR_001749569.1:n.1015+21_1015+22del
XR_001749574.1:n.866+21_866+22del
XR_001749576.1:n.1015+21_1015+22del
XR_001749577.1:n.1015+21_1015+22del
NM_000282.4:c.914+21_914+22del MANE Select	NP_000273.2:n.914+21_914+22del
NM_001352605.2:c.914+21_914+22del	NP_001339534.1:n.914+21_914+22del
NM_001352606.2:c.914+21_914+22del	NP_001339535.1:n.914+21_914+22del
NM_001352607.2:c.836+21_836+22del	NP_001339536.1:n.836+21_836+22del
NM_001352608.2:c.836+21_836+22del	NP_001339537.1:n.836+21_836+22del
NM_001352609.2:c.914+21_914+22del	NP_001339538.1:n.914+21_914+22del
NM_001352610.2:c.-32+21_-32+22del	NP_001339539.1:n.-32+21_-32+22del
NM_001352611.2:c.-32+21_-32+22del	NP_001339540.1:n.-32+21_-32+22del
NM_001352612.2:c.-32+21_-32+22del	NP_001339541.1:n.-32+21_-32+22del
NR_148027.2:n.942+21_942+22del
NR_148028.2:n.942+21_942+22del
NR_148029.2:n.864+21_864+22del
NR_148030.2:n.942+21_942+22del
NR_148031.2:n.942+21_942+22del
NM_001127692.3:c.836+21_836+22del	NP_001121164.1:n.836+21_836+22del
NM_001178004.2:c.914+21_914+22del	NP_001171475.1:n.914+21_914+22del