Canonical Allele Identifier: CA2662488422

Gene: PGAP1

Linked Data

• gnomAD v4: 2-196912807-GGAATAGCCACAGAGATTGATTTATTTAATCTTAAATAACAATGGGGAGGTTAATGTTCATGTAACAGTACTCACCTGTAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912811_196912891del , CM000664.2:g.196912811_196912891del	GRCh38
NC_000002.11:g.197777535_197777615del , CM000664.1:g.197777535_197777615del	GRCh37
NC_000002.10:g.197485780_197485860del	NCBI36
NG_046780.1:g.19108_19188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.643_649+74del
ENST00000354764.8:c.643_649+74del
ENST00000374738.3:c.147+13582_147+13662del	ENSP00000363870.3:n.147+13582_147+13662del
ENST00000409188.5:c.517_523+74del
ENST00000409475.5:c.643_649+74del
ENST00000423035.5:c.*574_*580+74del
ENST00000470179.5:n.271+13582_271+13662del
ENST00000485830.1:n.787_793+74del
NM_024989.3:c.643_649+74del
XM_011511878.1:c.643_649+74del
XM_011511879.1:c.121_127+74del
XM_011511880.1:c.643_649+74del
NM_001321099.1:c.121_127+74del
NM_001321100.1:c.-469_-463+74del
XM_017004992.1:c.121_127+74del
XM_017004993.1:c.121_127+74del
XM_017004994.1:c.-469_-463+74del
XM_024453156.1:c.-515_-509+74del
XR_001738959.1:n.1022_1028+74del
XR_001738960.1:n.1022_1028+74del
NM_024989.4:c.643_649+74del
NM_001321099.2:c.121_127+74del
NM_001321100.2:c.-469_-463+74del