Canonical Allele Identifier: CA2797244385

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877554_102877556del , CM000674.2:g.102877554_102877556del	GRCh38
NC_000012.11:g.103271332_103271334del , CM000674.1:g.103271332_103271334del	GRCh37
NC_000012.10:g.101795462_101795464del	NCBI36
NG_008690.1:g.45047_45049del
NG_008690.2:g.85855_85857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.353-6_353-4del MANE Select	ENSP00000448059.1:n.353-6_353-4del
ENST00000307000.7:c.338-6_338-4del	ENSP00000303500.2:n.338-6_338-4del
ENST00000549111.5:n.449-6_449-4del
ENST00000550978.6:c.337-6_337-4del
ENST00000551337.5:c.353-6_353-4del	ENSP00000447620.1:n.353-6_353-4del
ENST00000551988.5:n.442-6_442-4del
ENST00000553106.5:c.353-6_353-4del	ENSP00000448059.1:n.353-6_353-4del
NM_000277.1:c.353-6_353-4del	NP_000268.1:n.353-6_353-4del
XM_011538422.1:c.353-6_353-4del	XP_011536724.1:n.353-6_353-4del
NM_000277.2:c.353-6_353-4del	NP_000268.1:n.353-6_353-4del
NM_001354304.1:c.353-6_353-4del	NP_001341233.1:n.353-6_353-4del
XM_017019370.2:c.353-6_353-4del	XP_016874859.1:n.353-6_353-4del
NM_000277.3:c.353-6_353-4del MANE Select	NP_000268.1:n.353-6_353-4del
NM_001354304.2:c.353-6_353-4del	NP_001341233.1:n.353-6_353-4del