Canonical Allele Identifier: CA16020874

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851762del , CM000674.2:g.102851762del	GRCh38
NC_000012.11:g.103245540del , CM000674.1:g.103245540del	GRCh37
NC_000012.10:g.101769670del	NCBI36
NG_008690.1:g.70843del
NG_008690.2:g.111651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-4del MANE Select	ENSP00000448059.1:n.843-4del
ENST00000307000.7:c.828-4del	ENSP00000303500.2:n.828-4del
ENST00000549247.6:n.602-4del
ENST00000551114.2:n.501del
ENST00000553106.5:c.843-4del	ENSP00000448059.1:n.843-4del
ENST00000635477.1:c.4-4del
NM_000277.1:c.843-4del	NP_000268.1:n.843-4del
XM_011538422.1:c.843-4del	XP_011536724.1:n.843-4del
NM_000277.2:c.843-4del	NP_000268.1:n.843-4del
NM_001354304.1:c.843-4del	NP_001341233.1:n.843-4del
NM_000277.3:c.843-4del MANE Select	NP_000268.1:n.843-4del
NM_001354304.2:c.843-4del	NP_001341233.1:n.843-4del