Canonical Allele Identifier: CA915940209

Gene: PAH

Linked Data

• ClinVar Variation Id: 1693240
• ClinVar RCV Id: RCV002260499
• dbSNP Id: rs2136645010
• ERepo: CA915940209/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851768_102851771del , CM000674.2:g.102851768_102851771del	GRCh38
NC_000012.11:g.103245546_103245549del , CM000674.1:g.103245546_103245549del	GRCh37
NC_000012.10:g.101769676_101769679del	NCBI36
NG_008690.1:g.70834_70837del
NG_008690.2:g.111642_111645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-13_843-10del MANE Select	ENSP00000448059.1:n.843-13_843-10del
ENST00000307000.7:c.828-13_828-10del	ENSP00000303500.2:n.828-13_828-10del
ENST00000549247.6:n.602-13_602-10del
ENST00000551114.2:n.492_495del
ENST00000553106.5:c.843-13_843-10del	ENSP00000448059.1:n.843-13_843-10del
ENST00000635477.1:c.4-13_4-10del
NM_000277.1:c.843-13_843-10del	NP_000268.1:n.843-13_843-10del
XM_011538422.1:c.843-13_843-10del	XP_011536724.1:n.843-13_843-10del
NM_000277.2:c.843-13_843-10del	NP_000268.1:n.843-13_843-10del
NM_001354304.1:c.843-13_843-10del	NP_001341233.1:n.843-13_843-10del
NM_000277.3:c.843-13_843-10del MANE Select	NP_000268.1:n.843-13_843-10del
NM_001354304.2:c.843-13_843-10del	NP_001341233.1:n.843-13_843-10del