Canonical Allele Identifier: CA611991301

Gene: PCCA

Linked Data

• dbSNP Id: rs1338843782
• gnomAD v2: 13-100755378-TTC-T
• MyVariant Identifiers: chr13:g.100755379_100755380del (hg19) ; chr13:g.100103125_100103126del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100103126_100103127del , CM000675.2:g.100103126_100103127del	GRCh38
NC_000013.10:g.100755380_100755381del , CM000675.1:g.100755380_100755381del	GRCh37
NC_000013.9:g.99553381_99553382del	NCBI36
NG_008768.1:g.19044_19045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.183+166_183+167del MANE Select	ENSP00000365462.1:n.183+166_183+167del
ENST00000636366.1:c.62+166_62+167del
ENST00000636420.1:c.62+166_62+167del
ENST00000636475.1:c.62+166_62+167del
ENST00000637358.1:c.62+166_62+167del
ENST00000637657.1:c.62+166_62+167del
ENST00000647303.1:c.183+166_183+167del	ENSP00000495663.1:n.183+166_183+167del
ENST00000376279.7:c.183+166_183+167del	ENSP00000365456.3:n.183+166_183+167del
ENST00000376285.5:c.183+166_183+167del	ENSP00000365462.1:n.183+166_183+167del
ENST00000376286.8:c.106-8715_106-8714del	ENSP00000365463.4:n.106-8715_106-8714del
NM_000282.3:c.183+166_183+167del	NP_000273.2:n.183+166_183+167del
NM_001127692.2:c.106-8715_106-8714del	NP_001121164.1:n.106-8715_106-8714del
NM_001178004.1:c.183+166_183+167del	NP_001171475.1:n.183+166_183+167del
XM_005254059.2:c.183+166_183+167del	XP_005254116.1:n.183+166_183+167del
XM_011521093.1:c.183+166_183+167del	XP_011519395.1:n.183+166_183+167del
XR_931615.1:n.284+166_284+167del
XR_931616.1:n.284+166_284+167del
NM_001352605.1:c.183+166_183+167del	NP_001339534.1:n.183+166_183+167del
NM_001352606.1:c.183+166_183+167del	NP_001339535.1:n.183+166_183+167del
NM_001352607.1:c.106-8715_106-8714del	NP_001339536.1:n.106-8715_106-8714del
NM_001352608.1:c.106-8715_106-8714del	NP_001339537.1:n.106-8715_106-8714del
NM_001352609.1:c.183+166_183+167del	NP_001339538.1:n.183+166_183+167del
NM_001352610.1:c.-684+166_-684+167del	NP_001339539.1:n.-684+166_-684+167del
NM_001352611.1:c.-684+166_-684+167del	NP_001339540.1:n.-684+166_-684+167del
NM_001352612.1:c.-684+166_-684+167del	NP_001339541.1:n.-684+166_-684+167del
NR_148027.1:n.289+166_289+167del
NR_148028.1:n.289+166_289+167del
NR_148029.1:n.212-8715_212-8714del
NR_148030.1:n.289+166_289+167del
NR_148031.1:n.289+166_289+167del
XM_017020605.1:c.183+166_183+167del	XP_016876094.1:n.183+166_183+167del
XM_017020606.1:c.106-8715_106-8714del	XP_016876095.1:n.106-8715_106-8714del
XM_017020607.1:c.84+166_84+167del	XP_016876096.1:n.84+166_84+167del
XM_017020609.1:c.84+166_84+167del	XP_016876098.1:n.84+166_84+167del
XM_017020611.1:c.183+166_183+167del	XP_016876100.1:n.183+166_183+167del
XM_017020612.1:c.183+166_183+167del	XP_016876101.1:n.183+166_183+167del
XM_017020613.1:c.183+166_183+167del	XP_016876102.1:n.183+166_183+167del
XM_017020615.1:c.183+166_183+167del	XP_016876104.1:n.183+166_183+167del
XM_017020616.1:c.183+166_183+167del	XP_016876105.1:n.183+166_183+167del
XR_001749567.1:n.284+166_284+167del
XR_001749568.1:n.284+166_284+167del
XR_001749569.1:n.284+166_284+167del
XR_001749574.1:n.136-8715_136-8714del
XR_001749576.1:n.284+166_284+167del
XR_001749577.1:n.284+166_284+167del
NM_000282.4:c.183+166_183+167del MANE Select	NP_000273.2:n.183+166_183+167del
NM_001352605.2:c.183+166_183+167del	NP_001339534.1:n.183+166_183+167del
NM_001352606.2:c.183+166_183+167del	NP_001339535.1:n.183+166_183+167del
NM_001352607.2:c.106-8715_106-8714del	NP_001339536.1:n.106-8715_106-8714del
NM_001352608.2:c.106-8715_106-8714del	NP_001339537.1:n.106-8715_106-8714del
NM_001352609.2:c.183+166_183+167del	NP_001339538.1:n.183+166_183+167del
NM_001352610.2:c.-684+166_-684+167del	NP_001339539.1:n.-684+166_-684+167del
NM_001352611.2:c.-684+166_-684+167del	NP_001339540.1:n.-684+166_-684+167del
NM_001352612.2:c.-684+166_-684+167del	NP_001339541.1:n.-684+166_-684+167del
NR_148027.2:n.211+166_211+167del
NR_148028.2:n.211+166_211+167del
NR_148029.2:n.134-8715_134-8714del
NR_148030.2:n.211+166_211+167del
NR_148031.2:n.211+166_211+167del
NM_001127692.3:c.106-8715_106-8714del	NP_001121164.1:n.106-8715_106-8714del
NM_001178004.2:c.183+166_183+167del	NP_001171475.1:n.183+166_183+167del