Canonical Allele Identifier: CA2797242045

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847009_102847010insACACACCCAACACA , CM000674.2:g.102847009_102847010insACACACCCAACACA	GRCh38
NC_000012.11:g.103240787_103240788insACACACCCAACACA , CM000674.1:g.103240787_103240788insACACACCCAACACA	GRCh37
NC_000012.10:g.101764917_101764918insACACACCCAACACA	NCBI36
NG_008690.1:g.75594_75595insGTGTTGGGTGTGTT
NG_008690.2:g.116402_116403insGTGTTGGGTGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-58_913-57insGTGTTGGGTGTGTT MANE Select	ENSP00000448059.1:n.913-58_913-57insGTGTTGGGTGTGTT
ENST00000307000.7:c.898-58_898-57insGTGTTGGGTGTGTT	ENSP00000303500.2:n.898-58_898-57insGTGTTGGGTGTGTT
ENST00000549247.6:n.672-58_672-57insGTGTTGGGTGTGTT
ENST00000551114.2:n.575-58_575-57insGTGTTGGGTGTGTT
ENST00000553106.5:c.913-58_913-57insGTGTTGGGTGTGTT	ENSP00000448059.1:n.913-58_913-57insGTGTTGGGTGTGTT
ENST00000635477.1:c.74-2578_74-2577insGTGTTGGGTGTGTT
ENST00000635528.1:n.370_371insGTGTTGGGTGTGTT
NM_000277.1:c.913-58_913-57insGTGTTGGGTGTGTT	NP_000268.1:n.913-58_913-57insGTGTTGGGTGTGTT
XM_011538422.1:c.913-2578_913-2577insGTGTTGGGTGTGTT	XP_011536724.1:n.913-2578_913-2577insGTGTTGGGTGTGTT
NM_000277.2:c.913-58_913-57insGTGTTGGGTGTGTT	NP_000268.1:n.913-58_913-57insGTGTTGGGTGTGTT
NM_001354304.1:c.913-58_913-57insGTGTTGGGTGTGTT	NP_001341233.1:n.913-58_913-57insGTGTTGGGTGTGTT
NM_000277.3:c.913-58_913-57insGTGTTGGGTGTGTT MANE Select	NP_000268.1:n.913-58_913-57insGTGTTGGGTGTGTT
NM_001354304.2:c.913-58_913-57insGTGTTGGGTGTGTT	NP_001341233.1:n.913-58_913-57insGTGTTGGGTGTGTT