Canonical Allele Identifier: CA2797243675

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844547_102844551del , CM000674.2:g.102844547_102844551del	GRCh38
NC_000012.11:g.103238325_103238329del , CM000674.1:g.103238325_103238329del	GRCh37
NC_000012.10:g.101762455_101762459del	NCBI36
NG_008690.1:g.78052_78056del
NG_008690.2:g.118860_118864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-120_970-116del MANE Select	ENSP00000448059.1:n.970-120_970-116del
ENST00000307000.7:c.955-120_955-116del	ENSP00000303500.2:n.955-120_955-116del
ENST00000549247.6:n.729-120_729-116del
ENST00000551114.2:n.632-120_632-116del
ENST00000553106.5:c.970-120_970-116del	ENSP00000448059.1:n.970-120_970-116del
ENST00000635477.1:c.74-120_74-116del
ENST00000635528.1:n.485-120_485-116del
NM_000277.1:c.970-120_970-116del	NP_000268.1:n.970-120_970-116del
XM_011538422.1:c.913-120_913-116del	XP_011536724.1:n.913-120_913-116del
NM_000277.2:c.970-120_970-116del	NP_000268.1:n.970-120_970-116del
NM_001354304.1:c.970-120_970-116del	NP_001341233.1:n.970-120_970-116del
NM_000277.3:c.970-120_970-116del MANE Select	NP_000268.1:n.970-120_970-116del
NM_001354304.2:c.970-120_970-116del	NP_001341233.1:n.970-120_970-116del