Canonical Allele Identifier: CA2059462430
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1876615221
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877436_102877437insAGCAAGA , CM000674.2:g.102877436_102877437insAGCAAGA GRCh38
NC_000012.11:g.103271214_103271215insAGCAAGA , CM000674.1:g.103271214_103271215insAGCAAGA GRCh37
NC_000012.10:g.101795344_101795345insAGCAAGA NCBI36
NG_008690.1:g.45166_45167insTCTTGCT
NG_008690.2:g.85974_85975insTCTTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+25_441+26insTCTTGCT MANE Select ENSP00000448059.1:n.441+25_441+26insTCTTGCT
ENST00000307000.7:c.426+25_426+26insTCTTGCT ENSP00000303500.2:n.426+25_426+26insTCTTGCT
ENST00000549111.5:n.537+25_537+26insTCTTGCT
ENST00000550978.6:c.450_451insTCTTGCT
ENST00000551988.5:n.530+25_530+26insTCTTGCT
ENST00000553106.5:c.441+25_441+26insTCTTGCT ENSP00000448059.1:n.441+25_441+26insTCTTGCT
NM_000277.1:c.441+25_441+26insTCTTGCT NP_000268.1:n.441+25_441+26insTCTTGCT
XM_011538422.1:c.441+25_441+26insTCTTGCT XP_011536724.1:n.441+25_441+26insTCTTGCT
NM_000277.2:c.441+25_441+26insTCTTGCT NP_000268.1:n.441+25_441+26insTCTTGCT
NM_001354304.1:c.441+25_441+26insTCTTGCT NP_001341233.1:n.441+25_441+26insTCTTGCT
XM_017019370.2:c.441+25_441+26insTCTTGCT XP_016874859.1:n.441+25_441+26insTCTTGCT
NM_000277.3:c.441+25_441+26insTCTTGCT MANE Select NP_000268.1:n.441+25_441+26insTCTTGCT
NM_001354304.2:c.441+25_441+26insTCTTGCT NP_001341233.1:n.441+25_441+26insTCTTGCT
Search 100 bp 5'
Search 100 bp 3'