Canonical Allele Identifier: CA2620508891

Gene: PAH

Linked Data

• gnomAD v4: 12-102844549-GTCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844551_102844554del , CM000674.2:g.102844551_102844554del	GRCh38
NC_000012.11:g.103238329_103238332del , CM000674.1:g.103238329_103238332del	GRCh37
NC_000012.10:g.101762459_101762462del	NCBI36
NG_008690.1:g.78050_78053del
NG_008690.2:g.118858_118861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-122_970-119del MANE Select	ENSP00000448059.1:n.970-122_970-119del
ENST00000307000.7:c.955-122_955-119del	ENSP00000303500.2:n.955-122_955-119del
ENST00000549247.6:n.729-122_729-119del
ENST00000551114.2:n.632-122_632-119del
ENST00000553106.5:c.970-122_970-119del	ENSP00000448059.1:n.970-122_970-119del
ENST00000635477.1:c.74-122_74-119del
ENST00000635528.1:n.485-122_485-119del
NM_000277.1:c.970-122_970-119del	NP_000268.1:n.970-122_970-119del
XM_011538422.1:c.913-122_913-119del	XP_011536724.1:n.913-122_913-119del
NM_000277.2:c.970-122_970-119del	NP_000268.1:n.970-122_970-119del
NM_001354304.1:c.970-122_970-119del	NP_001341233.1:n.970-122_970-119del
NM_000277.3:c.970-122_970-119del MANE Select	NP_000268.1:n.970-122_970-119del
NM_001354304.2:c.970-122_970-119del	NP_001341233.1:n.970-122_970-119del