Canonical Allele Identifier: CA7033425

Gene: PCCA

Linked Data

• dbSNP Id: rs764415275
• ExAC: 13:100921013 AGAAGGTGGT / A
• gnomAD v2: 13-100921013-AGAAGGTGGT-A
• gnomAD v4: 13-100268759-AGAAGGTGGT-A
• MyVariant Identifiers: chr13:g.100921014_100921022del (hg19) ; chr13:g.100268760_100268768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100268761_100268769del , CM000675.2:g.100268761_100268769del	GRCh38
NC_000013.10:g.100921015_100921023del , CM000675.1:g.100921015_100921023del	GRCh37
NC_000013.9:g.99719016_99719024del	NCBI36
NG_008768.1:g.184679_184687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.892_900del MANE Select	ENSP00000365462.1:p.Lys298_Val300del
ENST00000636366.1:c.771_779del
ENST00000636420.1:c.771_779del
ENST00000636475.1:c.771_779del
ENST00000637657.1:c.771_779del
ENST00000647303.1:c.*740_*748del	ENSP00000495663.1:n.*740_*748del
ENST00000376279.7:c.892_900del	ENSP00000365456.3:p.Lys298_Val300del
ENST00000376285.5:c.892_900del	ENSP00000365462.1:p.Lys298_Val300del
ENST00000376286.8:c.814_822del	ENSP00000365463.4:p.Lys272_Val274del
NM_000282.3:c.892_900del	NP_000273.2:p.Lys298_Val300del
NM_001127692.2:c.814_822del	NP_001121164.1:p.Lys272_Val274del
NM_001178004.1:c.892_900del	NP_001171475.1:p.Lys298_Val300del
XM_005254059.2:c.892_900del	XP_005254116.1:p.Lys298_Val300del
XM_011521093.1:c.892_900del	XP_011519395.1:p.Lys298_Val300del
XR_931615.1:n.993_1001del
XR_931616.1:n.993_1001del
NM_001352605.1:c.892_900del	NP_001339534.1:p.Lys298_Val300del
NM_001352606.1:c.892_900del	NP_001339535.1:p.Lys298_Val300del
NM_001352607.1:c.814_822del	NP_001339536.1:p.Lys272_Val274del
NM_001352608.1:c.814_822del	NP_001339537.1:p.Lys272_Val274del
NM_001352609.1:c.892_900del	NP_001339538.1:p.Lys298_Val300del
NM_001352610.1:c.-54_-46del	NP_001339539.1:n.-54_-46del
NM_001352611.1:c.-54_-46del	NP_001339540.1:n.-54_-46del
NM_001352612.1:c.-54_-46del	NP_001339541.1:n.-54_-46del
NR_148027.1:n.998_1006del
NR_148028.1:n.998_1006del
NR_148029.1:n.920_928del
NR_148030.1:n.998_1006del
NR_148031.1:n.998_1006del
XM_017020605.1:c.892_900del	XP_016876094.1:p.Lys298_Val300del
XM_017020606.1:c.814_822del	XP_016876095.1:p.Lys272_Val274del
XM_017020607.1:c.793_801del	XP_016876096.1:p.Lys265_Val267del
XM_017020609.1:c.793_801del	XP_016876098.1:p.Lys265_Val267del
XM_017020611.1:c.892_900del	XP_016876100.1:p.Lys298_Val300del
XM_017020612.1:c.892_900del	XP_016876101.1:p.Lys298_Val300del
XM_017020613.1:c.892_900del	XP_016876102.1:p.Lys298_Val300del
XM_017020615.1:c.892_900del	XP_016876104.1:p.Lys298_Val300del
XM_017020616.1:c.892_900del	XP_016876105.1:p.Lys298_Val300del
XR_001749567.1:n.993_1001del
XR_001749568.1:n.993_1001del
XR_001749569.1:n.993_1001del
XR_001749574.1:n.844_852del
XR_001749576.1:n.993_1001del
XR_001749577.1:n.993_1001del
NM_000282.4:c.892_900del MANE Select	NP_000273.2:p.Lys298_Val300del
NM_001352605.2:c.892_900del	NP_001339534.1:p.Lys298_Val300del
NM_001352606.2:c.892_900del	NP_001339535.1:p.Lys298_Val300del
NM_001352607.2:c.814_822del	NP_001339536.1:p.Lys272_Val274del
NM_001352608.2:c.814_822del	NP_001339537.1:p.Lys272_Val274del
NM_001352609.2:c.892_900del	NP_001339538.1:p.Lys298_Val300del
NM_001352610.2:c.-54_-46del	NP_001339539.1:n.-54_-46del
NM_001352611.2:c.-54_-46del	NP_001339540.1:n.-54_-46del
NM_001352612.2:c.-54_-46del	NP_001339541.1:n.-54_-46del
NR_148027.2:n.920_928del
NR_148028.2:n.920_928del
NR_148029.2:n.842_850del
NR_148030.2:n.920_928del
NR_148031.2:n.920_928del
NM_001127692.3:c.814_822del	NP_001121164.1:p.Lys272_Val274del
NM_001178004.2:c.892_900del	NP_001171475.1:p.Lys298_Val300del