Canonical Allele Identifier: CA2059446803
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852970_102852971delinsGA , CM000674.2:g.102852970_102852971delinsGA GRCh38
NC_000012.11:g.103246748_103246749delinsGA , CM000674.1:g.103246748_103246749delinsGA GRCh37
NC_000012.10:g.101770878_101770879delinsGA NCBI36
NG_008690.1:g.69632_69633delinsTC
NG_008690.2:g.110440_110441delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-21_707-20delinsTC MANE Select ENSP00000448059.1:n.707-21_707-20delinsTC
ENST00000307000.7:c.692-21_692-20delinsTC ENSP00000303500.2:n.692-21_692-20delinsTC
ENST00000549247.6:n.445_446delinsTC
ENST00000553106.5:c.707-21_707-20delinsTC ENSP00000448059.1:n.707-21_707-20delinsTC
NM_000277.1:c.707-21_707-20delinsTC NP_000268.1:n.707-21_707-20delinsTC
XM_011538422.1:c.707-21_707-20delinsTC XP_011536724.1:n.707-21_707-20delinsTC
NM_000277.2:c.707-21_707-20delinsTC NP_000268.1:n.707-21_707-20delinsTC
NM_001354304.1:c.707-21_707-20delinsTC NP_001341233.1:n.707-21_707-20delinsTC
NM_000277.3:c.707-21_707-20delinsTC MANE Select NP_000268.1:n.707-21_707-20delinsTC
NM_001354304.2:c.707-21_707-20delinsTC NP_001341233.1:n.707-21_707-20delinsTC
Search 100 bp 5'
Search 100 bp 3'