Canonical Allele Identifier: CA352433
Gene: PGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222979
ClinVar RCV Id: RCV000208579 RCV000210383
dbSNP Id: rs869025579
MyVariant Identifiers: chr2:g.197784746_197784748del (hg19) chr2:g.196920022_196920024del (hg38)
PubMed: PMID:25804403 PMID:26350515
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196920023_196920025del , CM000664.2:g.196920023_196920025del GRCh38
NC_000002.11:g.197784747_197784749del , CM000664.1:g.197784747_197784749del GRCh37
NC_000002.10:g.197492992_197492994del NCBI36
NG_046780.1:g.11972_11974del

Transcript Alleles

HGVS Amino-acid change
ENST00000354764.9:c.274_276del MANE Select ENSP00000346809.3:p.Pro92del
ENST00000354764.8:c.274_276del ENSP00000346809.3:p.Pro92del
ENST00000374738.3:c.147+6446_147+6448del ENSP00000363870.3:n.147+6446_147+6448del
ENST00000409188.5:c.148_150del ENSP00000386802.1:p.Pro50del
ENST00000409475.5:c.274_276del ENSP00000387028.1:p.Pro92del
ENST00000423035.5:c.*205_*207del ENSP00000415405.1:n.*205_*207del
ENST00000470179.5:n.271+6446_271+6448del
ENST00000485830.1:n.418_420del
NM_024989.3:c.274_276del NP_079265.2:p.Pro92del
XM_011511878.1:c.274_276del XP_011510180.1:p.Pro92del
XM_011511879.1:c.-249_-247del XP_011510181.1:n.-249_-247del
XM_011511880.1:c.274_276del XP_011510182.1:p.Pro92del
NM_001321099.1:c.-249_-247del NP_001308028.1:n.-249_-247del
NM_001321100.1:c.-838_-836del NP_001308029.1:n.-838_-836del
XM_017004992.1:c.-249_-247del XP_016860481.1:n.-249_-247del
XM_017004993.1:c.-249_-247del XP_016860482.1:n.-249_-247del
XM_017004994.1:c.-838_-836del XP_016860483.1:n.-838_-836del
XM_024453156.1:c.-884_-882del XP_024308924.1:n.-884_-882del
XR_001738959.1:n.653_655del
XR_001738960.1:n.653_655del
NM_024989.4:c.274_276del MANE Select NP_079265.2:p.Pro92del
NM_001321099.2:c.-249_-247del NP_001308028.1:n.-249_-247del
NM_001321100.2:c.-838_-836del NP_001308029.1:n.-838_-836del
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