Canonical Allele Identifier: CA2620507535

Gene: PAH

Linked Data

• gnomAD v4: 12-102912730-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912730_102912731insT , CM000674.2:g.102912730_102912731insT	GRCh38
NC_000012.11:g.103306508_103306509insT , CM000674.1:g.103306508_103306509insT	GRCh37
NC_000012.10:g.101830638_101830639insT	NCBI36
NG_008690.1:g.9872_9873insA
NG_008690.2:g.50680_50681insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.168+60_168+61insA MANE Select	ENSP00000448059.1:n.168+60_168+61insA
ENST00000307000.7:c.153+60_153+61insA	ENSP00000303500.2:n.153+60_153+61insA
ENST00000546844.1:c.168+60_168+61insA	ENSP00000446658.1:n.168+60_168+61insA
ENST00000548677.2:n.255+60_255+61insA
ENST00000548928.1:n.90+60_90+61insA
ENST00000549111.5:n.264+60_264+61insA
ENST00000550978.6:c.152+60_152+61insA
ENST00000551337.5:c.168+60_168+61insA	ENSP00000447620.1:n.168+60_168+61insA
ENST00000551988.5:n.257+60_257+61insA
ENST00000553106.5:c.168+60_168+61insA	ENSP00000448059.1:n.168+60_168+61insA
ENST00000635500.1:n.136+60_136+61insA
NM_000277.1:c.168+60_168+61insA	NP_000268.1:n.168+60_168+61insA
XM_011538422.1:c.168+60_168+61insA	XP_011536724.1:n.168+60_168+61insA
NM_000277.2:c.168+60_168+61insA	NP_000268.1:n.168+60_168+61insA
NM_001354304.1:c.168+60_168+61insA	NP_001341233.1:n.168+60_168+61insA
XM_017019370.2:c.168+60_168+61insA	XP_016874859.1:n.168+60_168+61insA
NM_000277.3:c.168+60_168+61insA MANE Select	NP_000268.1:n.168+60_168+61insA
NM_001354304.2:c.168+60_168+61insA	NP_001341233.1:n.168+60_168+61insA