Canonical Allele Identifier: CA682803735

Gene: PAH

Linked Data

• dbSNP Id: rs1419372978
• MyVariant Identifiers: chr12:g.103245489_103245504del (hg19) ; chr12:g.102851711_102851726del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851712_102851727del , CM000674.2:g.102851712_102851727del	GRCh38
NC_000012.11:g.103245490_103245505del , CM000674.1:g.103245490_103245505del	GRCh37
NC_000012.10:g.101769620_101769635del	NCBI36
NG_008690.1:g.70877_70892del
NG_008690.2:g.111685_111700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.873_888del MANE Select	ENSP00000448059.1:p.Pro292AlafsTer?
ENST00000307000.7:c.858_873del	ENSP00000303500.2:p.Pro287AlafsTer?
ENST00000549247.6:n.632_647del
ENST00000551114.2:n.535_550del
ENST00000553106.5:c.873_888del	ENSP00000448059.1:p.Pro292AlafsTer?
ENST00000635477.1:c.34_49del
NM_000277.1:c.873_888del	NP_000268.1:p.Pro292AlafsTer?
XM_011538422.1:c.873_888del	XP_011536724.1:p.Pro292AlafsTer25
NM_000277.2:c.873_888del	NP_000268.1:p.Pro292AlafsTer?
NM_001354304.1:c.873_888del	NP_001341233.1:p.Pro292AlafsTer?
NM_000277.3:c.873_888del MANE Select	NP_000268.1:p.Pro292AlafsTer?
NM_001354304.2:c.873_888del	NP_001341233.1:p.Pro292AlafsTer?