Canonical Allele Identifier: CA2620508154
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102912987-CTCTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912992_102912995del , CM000674.2:g.102912992_102912995del GRCh38
NC_000012.11:g.103306770_103306773del , CM000674.1:g.103306770_103306773del GRCh37
NC_000012.10:g.101830900_101830903del NCBI36
NG_008690.1:g.9612_9615del
NG_008690.2:g.50420_50423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.61-93_61-90del MANE Select ENSP00000448059.1:n.61-93_61-90del
ENST00000307000.7:c.46-93_46-90del ENSP00000303500.2:n.46-93_46-90del
ENST00000546844.1:c.61-93_61-90del ENSP00000446658.1:n.61-93_61-90del
ENST00000548677.2:n.148-93_148-90del
ENST00000549111.5:n.157-93_157-90del
ENST00000550978.6:c.45-93_45-90del
ENST00000551337.5:c.61-93_61-90del ENSP00000447620.1:n.61-93_61-90del
ENST00000551988.5:n.150-93_150-90del
ENST00000553106.5:c.61-93_61-90del ENSP00000448059.1:n.61-93_61-90del
ENST00000635500.1:n.29-93_29-90del
NM_000277.1:c.61-93_61-90del NP_000268.1:n.61-93_61-90del
XM_011538422.1:c.61-93_61-90del XP_011536724.1:n.61-93_61-90del
NM_000277.2:c.61-93_61-90del NP_000268.1:n.61-93_61-90del
NM_001354304.1:c.61-93_61-90del NP_001341233.1:n.61-93_61-90del
XM_017019370.2:c.61-93_61-90del XP_016874859.1:n.61-93_61-90del
NM_000277.3:c.61-93_61-90del MANE Select NP_000268.1:n.61-93_61-90del
NM_001354304.2:c.61-93_61-90del NP_001341233.1:n.61-93_61-90del
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