Canonical Allele Identifier: CA2620507478

Gene: PAH

Linked Data

• gnomAD v4: 12-102912663-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912668del , CM000674.2:g.102912668del	GRCh38
NC_000012.11:g.103306446del , CM000674.1:g.103306446del	GRCh37
NC_000012.10:g.101830576del	NCBI36
NG_008690.1:g.9939del
NG_008690.2:g.50747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.168+127del MANE Select	ENSP00000448059.1:n.168+127del
ENST00000307000.7:c.153+127del	ENSP00000303500.2:n.153+127del
ENST00000546844.1:c.168+127del	ENSP00000446658.1:n.168+127del
ENST00000548677.2:n.255+127del
ENST00000548928.1:n.90+127del
ENST00000549111.5:n.264+127del
ENST00000550978.6:c.152+127del
ENST00000551337.5:c.168+127del	ENSP00000447620.1:n.168+127del
ENST00000551988.5:n.257+127del
ENST00000553106.5:c.168+127del	ENSP00000448059.1:n.168+127del
ENST00000635500.1:n.136+127del
NM_000277.1:c.168+127del	NP_000268.1:n.168+127del
XM_011538422.1:c.168+127del	XP_011536724.1:n.168+127del
NM_000277.2:c.168+127del	NP_000268.1:n.168+127del
NM_001354304.1:c.168+127del	NP_001341233.1:n.168+127del
XM_017019370.2:c.168+127del	XP_016874859.1:n.168+127del
NM_000277.3:c.168+127del MANE Select	NP_000268.1:n.168+127del
NM_001354304.2:c.168+127del	NP_001341233.1:n.168+127del