Canonical Allele Identifier: CA62801658
Community Standard Title: NM_024989.4(PGAP1):c.2630+199dup
Gene: PGAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196842530dup , CM000664.2:g.196842530dup GRCh38
NC_000002.11:g.197707254dup , CM000664.1:g.197707254dup GRCh37
NC_000002.10:g.197415499dup NCBI36
NG_046780.1:g.89474dup

Transcript Alleles

HGVS Amino-acid Change
NM_024989.4:c.2630+199dup MANE Select NP_079265.2:n.2630+199dup
ENST00000354764.9:c.2630+199dup MANE Select ENSP00000346809.3:n.2630+199dup
NM_001321099.1:c.2108+199dup NP_001308028.1:n.2108+199dup
NM_001321099.2:c.2108+199dup NP_001308028.1:n.2108+199dup
NM_001321100.1:c.1463+199dup NP_001308029.1:n.1463+199dup
NM_001321100.2:c.1463+199dup NP_001308029.1:n.1463+199dup
NM_024989.3:c.2630+199dup NP_079265.2:n.2630+199dup
ENST00000354764.8:c.2630+199dup ENSP00000346809.3:n.2630+199dup
ENST00000422444.1:c.342-1150dup ENSP00000390555.1:n.342-1150dup
ENST00000423035.5:c.*2561+199dup ENSP00000415405.1:n.*2561+199dup
ENST00000459896.5:n.105+199dup
ENST00000470179.5:n.2840+199dup
XM_011511878.1:c.2630+199dup XP_011510180.1:n.2630+199dup
XM_011511879.1:c.2108+199dup XP_011510181.1:n.2108+199dup
XM_017004992.1:c.2108+199dup XP_016860481.1:n.2108+199dup
XM_017004993.1:c.2108+199dup XP_016860482.1:n.2108+199dup
XM_017004994.1:c.1463+199dup XP_016860483.1:n.1463+199dup
XM_024453156.1:c.1463+199dup XP_024308924.1:n.1463+199dup
XR_001738959.1:n.2915+199dup