Canonical Allele Identifier: CA2059451103

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846786_102846787delinsAT , CM000674.2:g.102846786_102846787delinsAT	GRCh38
NC_000012.11:g.103240564_103240565delinsAT , CM000674.1:g.103240564_103240565delinsAT	GRCh37
NC_000012.10:g.101764694_101764695delinsAT	NCBI36
NG_008690.1:g.75816_75817delinsAT
NG_008690.2:g.116624_116625delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.969+108_969+109delinsAT MANE Select	ENSP00000448059.1:n.969+108_969+109delins...
ENST00000307000.7:c.954+108_954+109delinsAT	ENSP00000303500.2:n.954+108_954+109delins...
ENST00000549247.6:n.728+108_728+109delinsAT
ENST00000551114.2:n.631+108_631+109delinsAT
ENST00000553106.5:c.969+108_969+109delinsAT	ENSP00000448059.1:n.969+108_969+109delins...
ENST00000635477.1:c.74-2356_74-2355delinsAT
ENST00000635528.1:n.484+108_484+109delinsAT
NM_000277.1:c.969+108_969+109delinsAT	NP_000268.1:n.969+108_969+109delinsAT
XM_011538422.1:c.913-2356_913-2355delinsAT	XP_011536724.1:n.913-2356_913-2355delinsA...
NM_000277.2:c.969+108_969+109delinsAT	NP_000268.1:n.969+108_969+109delinsAT
NM_001354304.1:c.969+108_969+109delinsAT	NP_001341233.1:n.969+108_969+109delinsAT
NM_000277.3:c.969+108_969+109delinsAT MANE Select	NP_000268.1:n.969+108_969+109delinsAT
NM_001354304.2:c.969+108_969+109delinsAT	NP_001341233.1:n.969+108_969+109delinsAT