Canonical Allele Identifier: CA607148751

Gene: PAH

Linked Data

• dbSNP Id: rs1295393651
• gnomAD v2: 12-103311101-G-GGCAGCCT
• gnomAD v3: 12-102917323-G-GGCAGCCT
• gnomAD v4: 12-102917323-G-GGCAGCCT
• MyVariant Identifiers: chr12:g.103311101_103311102insGCAGCCT (hg19) ; chr12:g.102917323_102917324insGCAGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917326_102917332dup , CM000674.2:g.102917326_102917332dup	GRCh38
NC_000012.11:g.103311104_103311110dup , CM000674.1:g.103311104_103311110dup	GRCh37
NC_000012.10:g.101835234_101835240dup	NCBI36
NG_008690.1:g.5274_5280dup
NG_008690.2:g.46081_46087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-105_493-99dup
ENST00000546844.1:c.-95-105_-95-99dup	ENSP00000446658.1:n.-95-105_-95-99dup
ENST00000547319.1:n.217-105_217-99dup
ENST00000551337.5:c.-95-105_-95-99dup	ENSP00000447620.1:n.-95-105_-95-99dup
ENST00000553106.5:c.-200_-194dup	ENSP00000448059.1:n.-200_-194dup
ENST00000635500.1:n.29-4432_29-4426dup
NM_000277.1:c.-199_-193dup	NP_000268.1:n.-199_-193dup
NM_000277.2:c.-200_-194dup	NP_000268.1:n.-200_-194dup
NM_001354304.1:c.-95-105_-95-99dup	NP_001341233.1:n.-95-105_-95-99dup
NM_001354304.2:c.-95-105_-95-99dup	NP_001341233.1:n.-95-105_-95-99dup