Canonical Allele Identifier: CA2059443624

Gene: PAH

Linked Data

• dbSNP Id: rs1875131179

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851135_102851140del , CM000674.2:g.102851135_102851140del	GRCh38
NC_000012.11:g.103244913_103244918del , CM000674.1:g.103244913_103244918del	GRCh37
NC_000012.10:g.101769043_101769048del	NCBI36
NG_008690.1:g.71466_71471del
NG_008690.2:g.112274_112279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+550_912+555del MANE Select	ENSP00000448059.1:n.912+550_912+555del
ENST00000307000.7:c.897+550_897+555del	ENSP00000303500.2:n.897+550_897+555del
ENST00000549247.6:n.671+550_671+555del
ENST00000551114.2:n.574+550_574+555del
ENST00000553106.5:c.912+550_912+555del	ENSP00000448059.1:n.912+550_912+555del
ENST00000635477.1:c.73+550_73+555del
NM_000277.1:c.912+550_912+555del	NP_000268.1:n.912+550_912+555del
XM_011538422.1:c.912+550_912+555del	XP_011536724.1:n.912+550_912+555del
NM_000277.2:c.912+550_912+555del	NP_000268.1:n.912+550_912+555del
NM_001354304.1:c.912+550_912+555del	NP_001341233.1:n.912+550_912+555del
NM_000277.3:c.912+550_912+555del MANE Select	NP_000268.1:n.912+550_912+555del
NM_001354304.2:c.912+550_912+555del	NP_001341233.1:n.912+550_912+555del