Canonical Allele Identifier: CA386303913

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.102917196_102917197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917196_102917197del , CM000674.2:g.102917196_102917197del	GRCh38
NC_000012.11:g.103310974_103310975del , CM000674.1:g.103310974_103310975del	GRCh37
NC_000012.10:g.101835104_101835105del	NCBI36
NG_008690.1:g.5406_5407del
NG_008690.2:g.46214_46215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-67_-66del MANE Select	ENSP00000448059.1:n.-67_-66del
ENST00000307000.7:c.-214_-213del	ENSP00000303500.2:n.-214_-213del
ENST00000546708.5:n.521_522del
ENST00000546844.1:c.-67_-66del	ENSP00000446658.1:n.-67_-66del
ENST00000547319.1:n.245_246del
ENST00000549111.5:n.30_31del
ENST00000551337.5:c.-67_-66del	ENSP00000447620.1:n.-67_-66del
ENST00000551988.5:n.23_24del
ENST00000553106.5:c.-67_-66del	ENSP00000448059.1:n.-67_-66del
ENST00000635500.1:n.29-4299_29-4298del
NM_000277.1:c.-67_-66del	NP_000268.1:n.-67_-66del
XM_011538422.1:c.-67_-66del	XP_011536724.1:n.-67_-66del
NM_000277.2:c.-67_-66del	NP_000268.1:n.-67_-66del
NM_001354304.1:c.-67_-66del	NP_001341233.1:n.-67_-66del
XM_017019370.2:c.-67_-66del	XP_016874859.1:n.-67_-66del
NM_000277.3:c.-67_-66del MANE Select	NP_000268.1:n.-67_-66del
NM_001354304.2:c.-67_-66del	NP_001341233.1:n.-67_-66del