Canonical Allele Identifier: CA2059473641
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102913040_102913041delinsGA , CM000674.2:g.102913040_102913041delinsGA GRCh38
NC_000012.11:g.103306818_103306819delinsGA , CM000674.1:g.103306818_103306819delinsGA GRCh37
NC_000012.10:g.101830948_101830949delinsGA NCBI36
NG_008690.1:g.9562_9563delinsTC
NG_008690.2:g.50370_50371delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.61-143_61-142delinsTC MANE Select ENSP00000448059.1:n.61-143_61-142delinsTC
ENST00000307000.7:c.46-143_46-142delinsTC ENSP00000303500.2:n.46-143_46-142delinsTC
ENST00000546844.1:c.61-143_61-142delinsTC ENSP00000446658.1:n.61-143_61-142delinsTC
ENST00000548677.2:n.148-143_148-142delinsTC
ENST00000549111.5:n.157-143_157-142delinsTC
ENST00000550978.6:c.45-143_45-142delinsTC
ENST00000551337.5:c.61-143_61-142delinsTC ENSP00000447620.1:n.61-143_61-142delinsTC
ENST00000551988.5:n.150-143_150-142delinsTC
ENST00000553106.5:c.61-143_61-142delinsTC ENSP00000448059.1:n.61-143_61-142delinsTC
ENST00000635500.1:n.29-143_29-142delinsTC
NM_000277.1:c.61-143_61-142delinsTC NP_000268.1:n.61-143_61-142delinsTC
XM_011538422.1:c.61-143_61-142delinsTC XP_011536724.1:n.61-143_61-142delinsTC
NM_000277.2:c.61-143_61-142delinsTC NP_000268.1:n.61-143_61-142delinsTC
NM_001354304.1:c.61-143_61-142delinsTC NP_001341233.1:n.61-143_61-142delinsTC
XM_017019370.2:c.61-143_61-142delinsTC XP_016874859.1:n.61-143_61-142delinsTC
NM_000277.3:c.61-143_61-142delinsTC MANE Select NP_000268.1:n.61-143_61-142delinsTC
NM_001354304.2:c.61-143_61-142delinsTC NP_001341233.1:n.61-143_61-142delinsTC
Search 100 bp 5'
Search 100 bp 3'