Canonical Allele Identifier: CA2620527043
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840619-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840619_102840620insA , CM000674.2:g.102840619_102840620insA GRCh38
NC_000012.11:g.103234397_103234398insA , CM000674.1:g.103234397_103234398insA GRCh37
NC_000012.10:g.101758527_101758528insA NCBI36
NG_008690.1:g.81983_81984insT
NG_008690.2:g.122791_122792insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-105_1200-104insT MANE Select ENSP00000448059.1:n.1200-105_1200-104insT
ENST00000307000.7:c.1185-105_1185-104insT ENSP00000303500.2:n.1185-105_1185-104insT
ENST00000549247.6:n.959-105_959-104insT
ENST00000551114.2:n.862-105_862-104insT
ENST00000553106.5:c.1200-105_1200-104insT ENSP00000448059.1:n.1200-105_1200-104insT
ENST00000635477.1:c.304-105_304-104insT
ENST00000635528.1:n.715-105_715-104insT
NM_000277.1:c.1200-105_1200-104insT NP_000268.1:n.1200-105_1200-104insT
XM_011538422.1:c.1143-105_1143-104insT XP_011536724.1:n.1143-105_1143-104insT
NM_000277.2:c.1200-105_1200-104insT NP_000268.1:n.1200-105_1200-104insT
NM_001354304.1:c.1200-105_1200-104insT NP_001341233.1:n.1200-105_1200-104insT
NM_000277.3:c.1200-105_1200-104insT MANE Select NP_000268.1:n.1200-105_1200-104insT
NM_001354304.2:c.1200-105_1200-104insT NP_001341233.1:n.1200-105_1200-104insT
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