Canonical Allele Identifier: CA2620508797

Gene: PAH

Linked Data

• gnomAD v4: 12-102844507-T-TGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844507_102844508insGGAC , CM000674.2:g.102844507_102844508insGGAC	GRCh38
NC_000012.11:g.103238285_103238286insGGAC , CM000674.1:g.103238285_103238286insGGAC	GRCh37
NC_000012.10:g.101762415_101762416insGGAC	NCBI36
NG_008690.1:g.78095_78096insGTCC
NG_008690.2:g.118903_118904insGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-77_970-76insGTCC MANE Select	ENSP00000448059.1:n.970-77_970-76insGTCC
ENST00000307000.7:c.955-77_955-76insGTCC	ENSP00000303500.2:n.955-77_955-76insGTCC
ENST00000549247.6:n.729-77_729-76insGTCC
ENST00000551114.2:n.632-77_632-76insGTCC
ENST00000553106.5:c.970-77_970-76insGTCC	ENSP00000448059.1:n.970-77_970-76insGTCC
ENST00000635477.1:c.74-77_74-76insGTCC
ENST00000635528.1:n.485-77_485-76insGTCC
NM_000277.1:c.970-77_970-76insGTCC	NP_000268.1:n.970-77_970-76insGTCC
XM_011538422.1:c.913-77_913-76insGTCC	XP_011536724.1:n.913-77_913-76insGTCC
NM_000277.2:c.970-77_970-76insGTCC	NP_000268.1:n.970-77_970-76insGTCC
NM_001354304.1:c.970-77_970-76insGTCC	NP_001341233.1:n.970-77_970-76insGTCC
NM_000277.3:c.970-77_970-76insGTCC MANE Select	NP_000268.1:n.970-77_970-76insGTCC
NM_001354304.2:c.970-77_970-76insGTCC	NP_001341233.1:n.970-77_970-76insGTCC