Canonical Allele Identifier: CA2059446615

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852919_102852920delinsAG , CM000674.2:g.102852919_102852920delinsAG	GRCh38
NC_000012.11:g.103246697_103246698delinsAG , CM000674.1:g.103246697_103246698delinsAG	GRCh37
NC_000012.10:g.101770827_101770828delinsAG	NCBI36
NG_008690.1:g.69683_69684delinsCT
NG_008690.2:g.110491_110492delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.737_738delinsCT MANE Select	ENSP00000448059.1:p.Ala246=
ENST00000307000.7:c.722_723delinsCT	ENSP00000303500.2:p.Ala241=
ENST00000549247.6:n.496_497delinsCT
ENST00000553106.5:c.737_738delinsCT	ENSP00000448059.1:p.Ala246=
NM_000277.1:c.737_738delinsCT	NP_000268.1:p.Ala246=
XM_011538422.1:c.737_738delinsCT	XP_011536724.1:p.Ala246=
NM_000277.2:c.737_738delinsCT	NP_000268.1:p.Ala246=
NM_001354304.1:c.737_738delinsCT	NP_001341233.1:p.Ala246=
NM_000277.3:c.737_738delinsCT MANE Select	NP_000268.1:p.Ala246=
NM_001354304.2:c.737_738delinsCT	NP_001341233.1:p.Ala246=