Canonical Allele Identifier: CA2059446741

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852945_102852962delinsTGCAAGCTGGGATGAAAA , CM000674.2:g.102852945_102852962delinsTGCAAGCTGGGATGAAAA	GRCh38
NC_000012.11:g.103246723_103246740delinsTGCAAGCTGGGATGAAAA , CM000674.1:g.103246723_103246740delinsTGCAAGCTGGGATGAAAA	GRCh37
NC_000012.10:g.101770853_101770870delinsTGCAAGCTGGGATGAAAA	NCBI36
NG_008690.1:g.69641_69658delinsTTTTCATCCCAGCTTGCA
NG_008690.2:g.110449_110466delinsTTTTCATCCCAGCTTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.707-12_712delinsTTTTCATCCCAGCTTGCA
ENST00000307000.7:c.692-12_697delinsTTTTCATCCCAGCTTGCA
ENST00000549247.6:n.454_471delinsTTTTCATCCCAGCTTGCA
ENST00000553106.5:c.707-12_712delinsTTTTCATCCCAGCTTGCA
NM_000277.1:c.707-12_712delinsTTTTCATCCCAGCTTGCA
XM_011538422.1:c.707-12_712delinsTTTTCATCCCAGCTTGCA
NM_000277.2:c.707-12_712delinsTTTTCATCCCAGCTTGCA
NM_001354304.1:c.707-12_712delinsTTTTCATCCCAGCTTGCA
NM_000277.3:c.707-12_712delinsTTTTCATCCCAGCTTGCA
NM_001354304.2:c.707-12_712delinsTTTTCATCCCAGCTTGCA