Canonical Allele Identifier: CA2620511308

Gene: PAH

Linked Data

• gnomAD v4: 12-102917346-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917347del , CM000674.2:g.102917347del	GRCh38
NC_000012.11:g.103311125del , CM000674.1:g.103311125del	GRCh37
NC_000012.10:g.101835255del	NCBI36
NG_008690.1:g.5257del
NG_008690.2:g.46064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-122del
ENST00000546844.1:c.-95-122del	ENSP00000446658.1:n.-95-122del
ENST00000547319.1:n.217-122del
ENST00000551337.5:c.-95-122del	ENSP00000447620.1:n.-95-122del
ENST00000553106.5:c.-217del	ENSP00000448059.1:n.-217del
ENST00000635500.1:n.29-4449del
NM_000277.1:c.-216del	NP_000268.1:n.-216del
NM_000277.2:c.-217del	NP_000268.1:n.-217del
NM_001354304.1:c.-95-122del	NP_001341233.1:n.-95-122del
NM_001354304.2:c.-95-122del	NP_001341233.1:n.-95-122del