Canonical Allele Identifier: CA2601918560
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851086_102851087insA , CM000674.2:g.102851086_102851087insA GRCh38
NC_000012.11:g.103244864_103244865insA , CM000674.1:g.103244864_103244865insA GRCh37
NC_000012.10:g.101768994_101768995insA NCBI36
NG_008690.1:g.71516_71517insT
NG_008690.2:g.112324_112325insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.912+600_912+601insT MANE Select ENSP00000448059.1:n.912+600_912+601insT
ENST00000307000.7:c.897+600_897+601insT ENSP00000303500.2:n.897+600_897+601insT
ENST00000549247.6:n.671+600_671+601insT
ENST00000551114.2:n.574+600_574+601insT
ENST00000553106.5:c.912+600_912+601insT ENSP00000448059.1:n.912+600_912+601insT
ENST00000635477.1:c.73+600_73+601insT
NM_000277.1:c.912+600_912+601insT NP_000268.1:n.912+600_912+601insT
XM_011538422.1:c.912+600_912+601insT XP_011536724.1:n.912+600_912+601insT
NM_000277.2:c.912+600_912+601insT NP_000268.1:n.912+600_912+601insT
NM_001354304.1:c.912+600_912+601insT NP_001341233.1:n.912+600_912+601insT
NM_000277.3:c.912+600_912+601insT MANE Select NP_000268.1:n.912+600_912+601insT
NM_001354304.2:c.912+600_912+601insT NP_001341233.1:n.912+600_912+601insT