Canonical Allele Identifier: CA2797243704

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866636_102866674dup , CM000674.2:g.102866636_102866674dup	GRCh38
NC_000012.11:g.103260414_103260452dup , CM000674.1:g.103260414_103260452dup	GRCh37
NC_000012.10:g.101784544_101784582dup	NCBI36
NG_008690.1:g.55929_55967dup
NG_008690.2:g.96737_96775dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.442-11_469dup
ENST00000307000.7:c.427-11_454dup
ENST00000549111.5:n.538-11_565dup
ENST00000551988.5:n.530+10788_530+10826dup
ENST00000553106.5:c.442-11_469dup
NM_000277.1:c.442-11_469dup
XM_011538422.1:c.442-11_469dup
NM_000277.2:c.442-11_469dup
NM_001354304.1:c.442-11_469dup
XM_017019370.2:c.442-11_469dup
NM_000277.3:c.442-11_469dup
NM_001354304.2:c.442-11_469dup