Canonical Allele Identifier: CA694228260

Gene: PCCA

Linked Data

• dbSNP Id: rs1181327903
• gnomAD v3: 13-100309753-TTTAA-T
• gnomAD v4: 13-100309753-TTTAA-T
• MyVariant Identifiers: chr13:g.100962008_100962011del (hg19) ; chr13:g.100309754_100309757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309756_100309759del , CM000675.2:g.100309756_100309759del	GRCh38
NC_000013.10:g.100962010_100962013del , CM000675.1:g.100962010_100962013del	GRCh37
NC_000013.9:g.99760011_99760014del	NCBI36
NG_008768.1:g.225674_225677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1354-77_1354-74del MANE Select	ENSP00000365462.1:n.1354-77_1354-74del
ENST00000636366.1:c.944+36410_944+36413del
ENST00000636420.1:c.1231-77_1231-74del
ENST00000636475.1:c.945-20805_945-20802del
ENST00000637657.1:c.1014-77_1014-74del
ENST00000647303.1:c.*914-20805_*914-20802del	ENSP00000495663.1:n.*914-20805_*914-20802del
ENST00000376279.7:c.1354-77_1354-74del	ENSP00000365456.3:n.1354-77_1354-74del
ENST00000376285.5:c.1354-77_1354-74del	ENSP00000365462.1:n.1354-77_1354-74del
ENST00000376286.8:c.1276-77_1276-74del	ENSP00000365463.4:n.1276-77_1276-74del
ENST00000424527.5:c.31+16502_31+16505del	ENSP00000396050.1:n.31+16502_31+16505del
ENST00000443601.1:c.129-77_129-74del
NM_000282.3:c.1354-77_1354-74del	NP_000273.2:n.1354-77_1354-74del
NM_001127692.2:c.1276-77_1276-74del	NP_001121164.1:n.1276-77_1276-74del
NM_001178004.1:c.1354-77_1354-74del	NP_001171475.1:n.1354-77_1354-74del
XM_005254059.2:c.1354-77_1354-74del	XP_005254116.1:n.1354-77_1354-74del
XM_011521093.1:c.1354-77_1354-74del	XP_011519395.1:n.1354-77_1354-74del
XR_931615.1:n.1455-77_1455-74del
NM_001352605.1:c.1354-77_1354-74del	NP_001339534.1:n.1354-77_1354-74del
NM_001352606.1:c.1210-77_1210-74del	NP_001339535.1:n.1210-77_1210-74del
NM_001352607.1:c.1276-77_1276-74del	NP_001339536.1:n.1276-77_1276-74del
NM_001352608.1:c.1132-77_1132-74del	NP_001339537.1:n.1132-77_1132-74del
NM_001352609.1:c.1354-77_1354-74del	NP_001339538.1:n.1354-77_1354-74del
NM_001352610.1:c.409-77_409-74del	NP_001339539.1:n.409-77_409-74del
NM_001352611.1:c.409-77_409-74del	NP_001339540.1:n.409-77_409-74del
NM_001352612.1:c.265-77_265-74del	NP_001339541.1:n.265-77_265-74del
NR_148027.1:n.1544-77_1544-74del
NR_148028.1:n.1544-77_1544-74del
NR_148029.1:n.1466-77_1466-74del
NR_148030.1:n.1544-77_1544-74del
NR_148031.1:n.1460-77_1460-74del
XM_017020605.1:c.1354-77_1354-74del	XP_016876094.1:n.1354-77_1354-74del
XM_017020606.1:c.1276-77_1276-74del	XP_016876095.1:n.1276-77_1276-74del
XM_017020607.1:c.1255-77_1255-74del	XP_016876096.1:n.1255-77_1255-74del
XM_017020609.1:c.1255-77_1255-74del	XP_016876098.1:n.1255-77_1255-74del
XM_017020611.1:c.1354-77_1354-74del	XP_016876100.1:n.1354-77_1354-74del
XM_017020612.1:c.1354-77_1354-74del	XP_016876101.1:n.1354-77_1354-74del
XM_017020613.1:c.1354-77_1354-74del	XP_016876102.1:n.1354-77_1354-74del
XM_017020615.1:c.1354-77_1354-74del	XP_016876104.1:n.1354-77_1354-74del
XM_017020616.1:c.1354-77_1354-74del	XP_016876105.1:n.1354-77_1354-74del
XR_001749567.1:n.1455-77_1455-74del
XR_001749568.1:n.1455-77_1455-74del
XR_001749569.1:n.1455-77_1455-74del
XR_001749574.1:n.1390-77_1390-74del
XR_001749576.1:n.1167-20805_1167-20802del
XR_001749577.1:n.1167-20805_1167-20802del
NM_000282.4:c.1354-77_1354-74del MANE Select	NP_000273.2:n.1354-77_1354-74del
NM_001352605.2:c.1354-77_1354-74del	NP_001339534.1:n.1354-77_1354-74del
NM_001352606.2:c.1210-77_1210-74del	NP_001339535.1:n.1210-77_1210-74del
NM_001352607.2:c.1276-77_1276-74del	NP_001339536.1:n.1276-77_1276-74del
NM_001352608.2:c.1132-77_1132-74del	NP_001339537.1:n.1132-77_1132-74del
NM_001352609.2:c.1354-77_1354-74del	NP_001339538.1:n.1354-77_1354-74del
NM_001352610.2:c.409-77_409-74del	NP_001339539.1:n.409-77_409-74del
NM_001352611.2:c.409-77_409-74del	NP_001339540.1:n.409-77_409-74del
NM_001352612.2:c.265-77_265-74del	NP_001339541.1:n.265-77_265-74del
NR_148027.2:n.1466-77_1466-74del
NR_148028.2:n.1466-77_1466-74del
NR_148029.2:n.1388-77_1388-74del
NR_148030.2:n.1466-77_1466-74del
NR_148031.2:n.1382-77_1382-74del
NM_001127692.3:c.1276-77_1276-74del	NP_001121164.1:n.1276-77_1276-74del
NM_001178004.2:c.1354-77_1354-74del	NP_001171475.1:n.1354-77_1354-74del