Canonical Allele Identifier: CA2059443923

Gene: PAH

Linked Data

• dbSNP Id: rs1875140627

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851376_102851378del , CM000674.2:g.102851376_102851378del	GRCh38
NC_000012.11:g.103245154_103245156del , CM000674.1:g.103245154_103245156del	GRCh37
NC_000012.10:g.101769284_101769286del	NCBI36
NG_008690.1:g.71229_71231del
NG_008690.2:g.112037_112039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+313_912+315del MANE Select	ENSP00000448059.1:n.912+313_912+315del
ENST00000307000.7:c.897+313_897+315del	ENSP00000303500.2:n.897+313_897+315del
ENST00000549247.6:n.671+313_671+315del
ENST00000551114.2:n.574+313_574+315del
ENST00000553106.5:c.912+313_912+315del	ENSP00000448059.1:n.912+313_912+315del
ENST00000635477.1:c.73+313_73+315del
NM_000277.1:c.912+313_912+315del	NP_000268.1:n.912+313_912+315del
XM_011538422.1:c.912+313_912+315del	XP_011536724.1:n.912+313_912+315del
NM_000277.2:c.912+313_912+315del	NP_000268.1:n.912+313_912+315del
NM_001354304.1:c.912+313_912+315del	NP_001341233.1:n.912+313_912+315del
NM_000277.3:c.912+313_912+315del MANE Select	NP_000268.1:n.912+313_912+315del
NM_001354304.2:c.912+313_912+315del	NP_001341233.1:n.912+313_912+315del