Canonical Allele Identifier: CA2620511537

Gene: PAH

Linked Data

• gnomAD v4: 12-102917379-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917380del , CM000674.2:g.102917380del	GRCh38
NC_000012.11:g.103311158del , CM000674.1:g.103311158del	GRCh37
NC_000012.10:g.101835288del	NCBI36
NG_008690.1:g.5224del
NG_008690.2:g.46031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-155del
ENST00000546844.1:c.-95-155del	ENSP00000446658.1:n.-95-155del
ENST00000547319.1:n.217-155del
ENST00000551337.5:c.-95-155del	ENSP00000447620.1:n.-95-155del
ENST00000553106.5:c.-250del	ENSP00000448059.1:n.-250del
ENST00000635500.1:n.29-4482del
NM_000277.1:c.-249del	NP_000268.1:n.-249del
NM_000277.2:c.-250del	NP_000268.1:n.-250del
NM_001354304.1:c.-95-155del	NP_001341233.1:n.-95-155del
NM_001354304.2:c.-95-155del	NP_001341233.1:n.-95-155del