Canonical Allele Identifier: CA7033624

Gene: PCCA

Linked Data

• dbSNP Id: rs146754385
• ExAC: 13:100962046 AAT / A
• gnomAD v2: 13-100962046-AAT-A
• gnomAD v3: 13-100309792-AAT-A
• gnomAD v4: 13-100309792-AAT-A
• MyVariant Identifiers: chr13:g.100962047_100962048del (hg19) ; chr13:g.100309793_100309794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309805_100309806del , CM000675.2:g.100309805_100309806del	GRCh38
NC_000013.10:g.100962059_100962060del , CM000675.1:g.100962059_100962060del	GRCh37
NC_000013.9:g.99760060_99760061del	NCBI36
NG_008768.1:g.225723_225724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1354-28_1354-27del MANE Select	ENSP00000365462.1:n.1354-28_1354-27del
ENST00000636366.1:c.944+36459_944+36460del
ENST00000636420.1:c.1231-28_1231-27del
ENST00000636475.1:c.945-20756_945-20755del
ENST00000637657.1:c.1014-28_1014-27del
ENST00000647303.1:c.*914-20756_*914-20755del	ENSP00000495663.1:n.*914-20756_*914-20755del
ENST00000376279.7:c.1354-28_1354-27del	ENSP00000365456.3:n.1354-28_1354-27del
ENST00000376285.5:c.1354-28_1354-27del	ENSP00000365462.1:n.1354-28_1354-27del
ENST00000376286.8:c.1276-28_1276-27del	ENSP00000365463.4:n.1276-28_1276-27del
ENST00000424527.5:c.31+16551_31+16552del	ENSP00000396050.1:n.31+16551_31+16552del
ENST00000443601.1:c.129-28_129-27del
NM_000282.3:c.1354-28_1354-27del	NP_000273.2:n.1354-28_1354-27del
NM_001127692.2:c.1276-28_1276-27del	NP_001121164.1:n.1276-28_1276-27del
NM_001178004.1:c.1354-28_1354-27del	NP_001171475.1:n.1354-28_1354-27del
XM_005254059.2:c.1354-28_1354-27del	XP_005254116.1:n.1354-28_1354-27del
XM_011521093.1:c.1354-28_1354-27del	XP_011519395.1:n.1354-28_1354-27del
XR_931615.1:n.1455-28_1455-27del
NM_001352605.1:c.1354-28_1354-27del	NP_001339534.1:n.1354-28_1354-27del
NM_001352606.1:c.1210-28_1210-27del	NP_001339535.1:n.1210-28_1210-27del
NM_001352607.1:c.1276-28_1276-27del	NP_001339536.1:n.1276-28_1276-27del
NM_001352608.1:c.1132-28_1132-27del	NP_001339537.1:n.1132-28_1132-27del
NM_001352609.1:c.1354-28_1354-27del	NP_001339538.1:n.1354-28_1354-27del
NM_001352610.1:c.409-28_409-27del	NP_001339539.1:n.409-28_409-27del
NM_001352611.1:c.409-28_409-27del	NP_001339540.1:n.409-28_409-27del
NM_001352612.1:c.265-28_265-27del	NP_001339541.1:n.265-28_265-27del
NR_148027.1:n.1544-28_1544-27del
NR_148028.1:n.1544-28_1544-27del
NR_148029.1:n.1466-28_1466-27del
NR_148030.1:n.1544-28_1544-27del
NR_148031.1:n.1460-28_1460-27del
XM_017020605.1:c.1354-28_1354-27del	XP_016876094.1:n.1354-28_1354-27del
XM_017020606.1:c.1276-28_1276-27del	XP_016876095.1:n.1276-28_1276-27del
XM_017020607.1:c.1255-28_1255-27del	XP_016876096.1:n.1255-28_1255-27del
XM_017020609.1:c.1255-28_1255-27del	XP_016876098.1:n.1255-28_1255-27del
XM_017020611.1:c.1354-28_1354-27del	XP_016876100.1:n.1354-28_1354-27del
XM_017020612.1:c.1354-28_1354-27del	XP_016876101.1:n.1354-28_1354-27del
XM_017020613.1:c.1354-28_1354-27del	XP_016876102.1:n.1354-28_1354-27del
XM_017020615.1:c.1354-28_1354-27del	XP_016876104.1:n.1354-28_1354-27del
XM_017020616.1:c.1354-28_1354-27del	XP_016876105.1:n.1354-28_1354-27del
XR_001749567.1:n.1455-28_1455-27del
XR_001749568.1:n.1455-28_1455-27del
XR_001749569.1:n.1455-28_1455-27del
XR_001749574.1:n.1390-28_1390-27del
XR_001749576.1:n.1167-20756_1167-20755del
XR_001749577.1:n.1167-20756_1167-20755del
NM_000282.4:c.1354-28_1354-27del MANE Select	NP_000273.2:n.1354-28_1354-27del
NM_001352605.2:c.1354-28_1354-27del	NP_001339534.1:n.1354-28_1354-27del
NM_001352606.2:c.1210-28_1210-27del	NP_001339535.1:n.1210-28_1210-27del
NM_001352607.2:c.1276-28_1276-27del	NP_001339536.1:n.1276-28_1276-27del
NM_001352608.2:c.1132-28_1132-27del	NP_001339537.1:n.1132-28_1132-27del
NM_001352609.2:c.1354-28_1354-27del	NP_001339538.1:n.1354-28_1354-27del
NM_001352610.2:c.409-28_409-27del	NP_001339539.1:n.409-28_409-27del
NM_001352611.2:c.409-28_409-27del	NP_001339540.1:n.409-28_409-27del
NM_001352612.2:c.265-28_265-27del	NP_001339541.1:n.265-28_265-27del
NR_148027.2:n.1466-28_1466-27del
NR_148028.2:n.1466-28_1466-27del
NR_148029.2:n.1388-28_1388-27del
NR_148030.2:n.1466-28_1466-27del
NR_148031.2:n.1382-28_1382-27del
NM_001127692.3:c.1276-28_1276-27del	NP_001121164.1:n.1276-28_1276-27del
NM_001178004.2:c.1354-28_1354-27del	NP_001171475.1:n.1354-28_1354-27del