Canonical Allele Identifier: CA220580

Gene: PAH

Linked Data

• ClinVar Variation Id: 92740
• ClinVar RCV Id: RCV000078519 ; RCV000721174
• dbSNP Id: rs398123291
• ExAC: 12:103288546 GGACAGTGGC / G
• gnomAD v2: 12-103288546-GGACAGTGGC-G
• MyVariant Identifiers: chr12:g.103288547_103288555del (hg19) ; chr12:g.103288547_103288555delGACAGTGGC (hg19) ; chr12:g.102894769_102894777del (hg38)
• ERepo: CA220580/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894769_102894777del , CM000674.2:g.102894769_102894777del	GRCh38
NC_000012.11:g.103288547_103288555del , CM000674.1:g.103288547_103288555del	GRCh37
NC_000012.10:g.101812677_101812685del	NCBI36
NG_008690.1:g.27826_27834del
NG_008690.2:g.68634_68642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.310_318del MANE Select	ENSP00000448059.1:p.Ala104_Val106del
ENST00000307000.7:c.295_303del	ENSP00000303500.2:p.Ala99_Val101del
ENST00000546844.1:c.310_318del	ENSP00000446658.1:p.Ala104_Val106del
ENST00000548928.1:n.232_240del
ENST00000549111.5:n.406_414del
ENST00000550978.6:c.294_302del
ENST00000551337.5:c.310_318del	ENSP00000447620.1:p.Ala104_Val106del
ENST00000551988.5:n.399_407del
ENST00000553106.5:c.310_318del	ENSP00000448059.1:p.Ala104_Val106del
NM_000277.1:c.310_318del	NP_000268.1:p.Ala104_Val106del
XM_011538422.1:c.310_318del	XP_011536724.1:p.Ala104_Val106del
NM_000277.2:c.310_318del	NP_000268.1:p.Ala104_Val106del
NM_001354304.1:c.310_318del	NP_001341233.1:p.Ala104_Val106del
XM_017019370.2:c.310_318del	XP_016874859.1:p.Ala104_Val106del
NM_000277.3:c.310_318del MANE Select	NP_000268.1:p.Ala104_Val106del
NM_001354304.2:c.310_318del	NP_001341233.1:p.Ala104_Val106del