Canonical Allele Identifier: CA2620507518
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102912718-T-TAGTTAGA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912718_102912719insAGTTAGA , CM000674.2:g.102912718_102912719insAGTTAGA GRCh38
NC_000012.11:g.103306496_103306497insAGTTAGA , CM000674.1:g.103306496_103306497insAGTTAGA GRCh37
NC_000012.10:g.101830626_101830627insAGTTAGA NCBI36
NG_008690.1:g.9884_9885insTCTAACT
NG_008690.2:g.50692_50693insTCTAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+72_168+73insTCTAACT MANE Select ENSP00000448059.1:n.168+72_168+73insTCTAACT
ENST00000307000.7:c.153+72_153+73insTCTAACT ENSP00000303500.2:n.153+72_153+73insTCTAACT
ENST00000546844.1:c.168+72_168+73insTCTAACT ENSP00000446658.1:n.168+72_168+73insTCTAACT
ENST00000548677.2:n.255+72_255+73insTCTAACT
ENST00000548928.1:n.90+72_90+73insTCTAACT
ENST00000549111.5:n.264+72_264+73insTCTAACT
ENST00000550978.6:c.152+72_152+73insTCTAACT
ENST00000551337.5:c.168+72_168+73insTCTAACT ENSP00000447620.1:n.168+72_168+73insTCTAACT
ENST00000551988.5:n.257+72_257+73insTCTAACT
ENST00000553106.5:c.168+72_168+73insTCTAACT ENSP00000448059.1:n.168+72_168+73insTCTAACT
ENST00000635500.1:n.136+72_136+73insTCTAACT
NM_000277.1:c.168+72_168+73insTCTAACT NP_000268.1:n.168+72_168+73insTCTAACT
XM_011538422.1:c.168+72_168+73insTCTAACT XP_011536724.1:n.168+72_168+73insTCTAACT
NM_000277.2:c.168+72_168+73insTCTAACT NP_000268.1:n.168+72_168+73insTCTAACT
NM_001354304.1:c.168+72_168+73insTCTAACT NP_001341233.1:n.168+72_168+73insTCTAACT
XM_017019370.2:c.168+72_168+73insTCTAACT XP_016874859.1:n.168+72_168+73insTCTAACT
NM_000277.3:c.168+72_168+73insTCTAACT MANE Select NP_000268.1:n.168+72_168+73insTCTAACT
NM_001354304.2:c.168+72_168+73insTCTAACT NP_001341233.1:n.168+72_168+73insTCTAACT
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