Canonical Allele Identifier: CA2545144555

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855045_102855046insAAAGCCCAA , CM000674.2:g.102855045_102855046insAAAGCCCAA	GRCh38
NC_000012.11:g.103248823_103248824insAAAGCCCAA , CM000674.1:g.103248823_103248824insAAAGCCCAA	GRCh37
NC_000012.10:g.101772953_101772954insAAAGCCCAA	NCBI36
NG_008690.1:g.67557_67558insTTGGGCTTT
NG_008690.2:g.108365_108366insTTGGGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+90_706+91insTTGGGCTTT MANE Select	ENSP00000448059.1:n.706+90_706+91insTTGGGCTTT
ENST00000307000.7:c.691+90_691+91insTTGGGCTTT	ENSP00000303500.2:n.691+90_691+91insTTGGGCTTT
ENST00000549111.5:n.892_893insTTGGGCTTT
ENST00000553106.5:c.706+90_706+91insTTGGGCTTT	ENSP00000448059.1:n.706+90_706+91insTTGGGCTTT
NM_000277.1:c.706+90_706+91insTTGGGCTTT	NP_000268.1:n.706+90_706+91insTTGGGCTTT
XM_011538422.1:c.706+90_706+91insTTGGGCTTT	XP_011536724.1:n.706+90_706+91insTTGGGCTTT
NM_000277.2:c.706+90_706+91insTTGGGCTTT	NP_000268.1:n.706+90_706+91insTTGGGCTTT
NM_001354304.1:c.706+90_706+91insTTGGGCTTT	NP_001341233.1:n.706+90_706+91insTTGGGCTTT
XM_017019370.2:c.706+90_706+91insTTGGGCTTT	XP_016874859.1:n.706+90_706+91insTTGGGCTTT
NM_000277.3:c.706+90_706+91insTTGGGCTTT MANE Select	NP_000268.1:n.706+90_706+91insTTGGGCTTT
NM_001354304.2:c.706+90_706+91insTTGGGCTTT	NP_001341233.1:n.706+90_706+91insTTGGGCTTT