Canonical Allele Identifier: CA16020899

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846932_102846937del , CM000674.2:g.102846932_102846937del	GRCh38
NC_000012.11:g.103240710_103240715del , CM000674.1:g.103240710_103240715del	GRCh37
NC_000012.10:g.101764840_101764845del	NCBI36
NG_008690.1:g.75666_75671del
NG_008690.2:g.116474_116479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.927_932del MANE Select	ENSP00000448059.1:p.Ser310_Leu311del
ENST00000307000.7:c.912_917del	ENSP00000303500.2:p.Ser305_Leu306del
ENST00000549247.6:n.686_691del
ENST00000551114.2:n.589_594del
ENST00000553106.5:c.927_932del	ENSP00000448059.1:p.Ser310_Leu311del
ENST00000635477.1:c.74-2506_74-2501del
ENST00000635528.1:n.442_447del
NM_000277.1:c.927_932del	NP_000268.1:p.Ser310_Leu311del
XM_011538422.1:c.913-2506_913-2501del	XP_011536724.1:n.913-2506_913-2501del
NM_000277.2:c.927_932del	NP_000268.1:p.Ser310_Leu311del
NM_001354304.1:c.927_932del	NP_001341233.1:p.Ser310_Leu311del
NM_000277.3:c.927_932del MANE Select	NP_000268.1:p.Ser310_Leu311del
NM_001354304.2:c.927_932del	NP_001341233.1:p.Ser310_Leu311del