Canonical Allele Identifier: CA694228313

Gene: PCCA

Linked Data

• dbSNP Id: rs1305431730
• gnomAD v3: 13-100309818-TTTGC-T
• gnomAD v4: 13-100309818-TTTGC-T
• MyVariant Identifiers: chr13:g.100962073_100962076del (hg19) ; chr13:g.100309819_100309822del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309822_100309825del , CM000675.2:g.100309822_100309825del	GRCh38
NC_000013.10:g.100962076_100962079del , CM000675.1:g.100962076_100962079del	GRCh37
NC_000013.9:g.99760077_99760080del	NCBI36
NG_008768.1:g.225740_225743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1354-11_1354-8del MANE Select	ENSP00000365462.1:n.1354-11_1354-8del
ENST00000636366.1:c.944+36476_944+36479del
ENST00000636420.1:c.1231-11_1231-8del
ENST00000636475.1:c.945-20739_945-20736del
ENST00000637657.1:c.1014-11_1014-8del
ENST00000647303.1:c.*914-20739_*914-20736del	ENSP00000495663.1:n.*914-20739_*914-20736del
ENST00000376279.7:c.1354-11_1354-8del	ENSP00000365456.3:n.1354-11_1354-8del
ENST00000376285.5:c.1354-11_1354-8del	ENSP00000365462.1:n.1354-11_1354-8del
ENST00000376286.8:c.1276-11_1276-8del	ENSP00000365463.4:n.1276-11_1276-8del
ENST00000424527.5:c.31+16568_31+16571del	ENSP00000396050.1:n.31+16568_31+16571del
ENST00000443601.1:c.129-11_129-8del
NM_000282.3:c.1354-11_1354-8del	NP_000273.2:n.1354-11_1354-8del
NM_001127692.2:c.1276-11_1276-8del	NP_001121164.1:n.1276-11_1276-8del
NM_001178004.1:c.1354-11_1354-8del	NP_001171475.1:n.1354-11_1354-8del
XM_005254059.2:c.1354-11_1354-8del	XP_005254116.1:n.1354-11_1354-8del
XM_011521093.1:c.1354-11_1354-8del	XP_011519395.1:n.1354-11_1354-8del
XR_931615.1:n.1455-11_1455-8del
NM_001352605.1:c.1354-11_1354-8del	NP_001339534.1:n.1354-11_1354-8del
NM_001352606.1:c.1210-11_1210-8del	NP_001339535.1:n.1210-11_1210-8del
NM_001352607.1:c.1276-11_1276-8del	NP_001339536.1:n.1276-11_1276-8del
NM_001352608.1:c.1132-11_1132-8del	NP_001339537.1:n.1132-11_1132-8del
NM_001352609.1:c.1354-11_1354-8del	NP_001339538.1:n.1354-11_1354-8del
NM_001352610.1:c.409-11_409-8del	NP_001339539.1:n.409-11_409-8del
NM_001352611.1:c.409-11_409-8del	NP_001339540.1:n.409-11_409-8del
NM_001352612.1:c.265-11_265-8del	NP_001339541.1:n.265-11_265-8del
NR_148027.1:n.1544-11_1544-8del
NR_148028.1:n.1544-11_1544-8del
NR_148029.1:n.1466-11_1466-8del
NR_148030.1:n.1544-11_1544-8del
NR_148031.1:n.1460-11_1460-8del
XM_017020605.1:c.1354-11_1354-8del	XP_016876094.1:n.1354-11_1354-8del
XM_017020606.1:c.1276-11_1276-8del	XP_016876095.1:n.1276-11_1276-8del
XM_017020607.1:c.1255-11_1255-8del	XP_016876096.1:n.1255-11_1255-8del
XM_017020609.1:c.1255-11_1255-8del	XP_016876098.1:n.1255-11_1255-8del
XM_017020611.1:c.1354-11_1354-8del	XP_016876100.1:n.1354-11_1354-8del
XM_017020612.1:c.1354-11_1354-8del	XP_016876101.1:n.1354-11_1354-8del
XM_017020613.1:c.1354-11_1354-8del	XP_016876102.1:n.1354-11_1354-8del
XM_017020615.1:c.1354-11_1354-8del	XP_016876104.1:n.1354-11_1354-8del
XM_017020616.1:c.1354-11_1354-8del	XP_016876105.1:n.1354-11_1354-8del
XR_001749567.1:n.1455-11_1455-8del
XR_001749568.1:n.1455-11_1455-8del
XR_001749569.1:n.1455-11_1455-8del
XR_001749574.1:n.1390-11_1390-8del
XR_001749576.1:n.1167-20739_1167-20736del
XR_001749577.1:n.1167-20739_1167-20736del
NM_000282.4:c.1354-11_1354-8del MANE Select	NP_000273.2:n.1354-11_1354-8del
NM_001352605.2:c.1354-11_1354-8del	NP_001339534.1:n.1354-11_1354-8del
NM_001352606.2:c.1210-11_1210-8del	NP_001339535.1:n.1210-11_1210-8del
NM_001352607.2:c.1276-11_1276-8del	NP_001339536.1:n.1276-11_1276-8del
NM_001352608.2:c.1132-11_1132-8del	NP_001339537.1:n.1132-11_1132-8del
NM_001352609.2:c.1354-11_1354-8del	NP_001339538.1:n.1354-11_1354-8del
NM_001352610.2:c.409-11_409-8del	NP_001339539.1:n.409-11_409-8del
NM_001352611.2:c.409-11_409-8del	NP_001339540.1:n.409-11_409-8del
NM_001352612.2:c.265-11_265-8del	NP_001339541.1:n.265-11_265-8del
NR_148027.2:n.1466-11_1466-8del
NR_148028.2:n.1466-11_1466-8del
NR_148029.2:n.1388-11_1388-8del
NR_148030.2:n.1466-11_1466-8del
NR_148031.2:n.1382-11_1382-8del
NM_001127692.3:c.1276-11_1276-8del	NP_001121164.1:n.1276-11_1276-8del
NM_001178004.2:c.1354-11_1354-8del	NP_001171475.1:n.1354-11_1354-8del