Canonical Allele Identifier: CA2620507535
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102912730-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912730_102912731insT , CM000674.2:g.102912730_102912731insT GRCh38
NC_000012.11:g.103306508_103306509insT , CM000674.1:g.103306508_103306509insT GRCh37
NC_000012.10:g.101830638_101830639insT NCBI36
NG_008690.1:g.9872_9873insA
NG_008690.2:g.50680_50681insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+60_168+61insA MANE Select ENSP00000448059.1:n.168+60_168+61insA
ENST00000307000.7:c.153+60_153+61insA ENSP00000303500.2:n.153+60_153+61insA
ENST00000546844.1:c.168+60_168+61insA ENSP00000446658.1:n.168+60_168+61insA
ENST00000548677.2:n.255+60_255+61insA
ENST00000548928.1:n.90+60_90+61insA
ENST00000549111.5:n.264+60_264+61insA
ENST00000550978.6:c.152+60_152+61insA
ENST00000551337.5:c.168+60_168+61insA ENSP00000447620.1:n.168+60_168+61insA
ENST00000551988.5:n.257+60_257+61insA
ENST00000553106.5:c.168+60_168+61insA ENSP00000448059.1:n.168+60_168+61insA
ENST00000635500.1:n.136+60_136+61insA
NM_000277.1:c.168+60_168+61insA NP_000268.1:n.168+60_168+61insA
XM_011538422.1:c.168+60_168+61insA XP_011536724.1:n.168+60_168+61insA
NM_000277.2:c.168+60_168+61insA NP_000268.1:n.168+60_168+61insA
NM_001354304.1:c.168+60_168+61insA NP_001341233.1:n.168+60_168+61insA
XM_017019370.2:c.168+60_168+61insA XP_016874859.1:n.168+60_168+61insA
NM_000277.3:c.168+60_168+61insA MANE Select NP_000268.1:n.168+60_168+61insA
NM_001354304.2:c.168+60_168+61insA NP_001341233.1:n.168+60_168+61insA
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