Canonical Allele Identifier: CA2620510363

Gene: PAH

Linked Data

• gnomAD v4: 12-102917190-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917192_102917193del , CM000674.2:g.102917192_102917193del	GRCh38
NC_000012.11:g.103310970_103310971del , CM000674.1:g.103310970_103310971del	GRCh37
NC_000012.10:g.101835100_101835101del	NCBI36
NG_008690.1:g.5411_5412del
NG_008690.2:g.46219_46220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-62_-61del MANE Select	ENSP00000448059.1:n.-62_-61del
ENST00000307000.7:c.-209_-208del	ENSP00000303500.2:n.-209_-208del
ENST00000546708.5:n.526_527del
ENST00000546844.1:c.-62_-61del	ENSP00000446658.1:n.-62_-61del
ENST00000547319.1:n.250_251del
ENST00000549111.5:n.35_36del
ENST00000551337.5:c.-62_-61del	ENSP00000447620.1:n.-62_-61del
ENST00000551988.5:n.28_29del
ENST00000553106.5:c.-62_-61del	ENSP00000448059.1:n.-62_-61del
ENST00000635500.1:n.29-4294_29-4293del
NM_000277.1:c.-62_-61del	NP_000268.1:n.-62_-61del
XM_011538422.1:c.-62_-61del	XP_011536724.1:n.-62_-61del
NM_000277.2:c.-62_-61del	NP_000268.1:n.-62_-61del
NM_001354304.1:c.-62_-61del	NP_001341233.1:n.-62_-61del
XM_017019370.2:c.-62_-61del	XP_016874859.1:n.-62_-61del
NM_000277.3:c.-62_-61del MANE Select	NP_000268.1:n.-62_-61del
NM_001354304.2:c.-62_-61del	NP_001341233.1:n.-62_-61del