Canonical Allele Identifier: CA242472089

Gene: PAH

Linked Data

• ClinVar Variation Id: 550114
• ClinVar RCV Id: RCV000664757
• dbSNP Id: rs997821067
• gnomAD v3: 12-102917194-CAG-C
• gnomAD v4: 12-102917194-CAG-C
• MyVariant Identifiers: chr12:g.103310973_103310974del (hg19) ; chr12:g.102917195_102917196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917195_102917196del , CM000674.2:g.102917195_102917196del	GRCh38
NC_000012.11:g.103310973_103310974del , CM000674.1:g.103310973_103310974del	GRCh37
NC_000012.10:g.101835103_101835104del	NCBI36
NG_008690.1:g.5407_5408del
NG_008690.2:g.46215_46216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-66_-65del MANE Select	ENSP00000448059.1:n.-66_-65del
ENST00000307000.7:c.-213_-212del	ENSP00000303500.2:n.-213_-212del
ENST00000546708.5:n.522_523del
ENST00000546844.1:c.-66_-65del	ENSP00000446658.1:n.-66_-65del
ENST00000547319.1:n.246_247del
ENST00000549111.5:n.31_32del
ENST00000551337.5:c.-66_-65del	ENSP00000447620.1:n.-66_-65del
ENST00000551988.5:n.24_25del
ENST00000553106.5:c.-66_-65del	ENSP00000448059.1:n.-66_-65del
ENST00000635500.1:n.29-4298_29-4297del
NM_000277.1:c.-66_-65del	NP_000268.1:n.-66_-65del
XM_011538422.1:c.-66_-65del	XP_011536724.1:n.-66_-65del
NM_000277.2:c.-66_-65del	NP_000268.1:n.-66_-65del
NM_001354304.1:c.-66_-65del	NP_001341233.1:n.-66_-65del
XM_017019370.2:c.-66_-65del	XP_016874859.1:n.-66_-65del
NM_000277.3:c.-66_-65del MANE Select	NP_000268.1:n.-66_-65del
NM_001354304.2:c.-66_-65del	NP_001341233.1:n.-66_-65del