Canonical Allele Identifier: CA2059448759

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844514_102844515delinsAT , CM000674.2:g.102844514_102844515delinsAT	GRCh38
NC_000012.11:g.103238292_103238293delinsAT , CM000674.1:g.103238292_103238293delinsAT	GRCh37
NC_000012.10:g.101762422_101762423delinsAT	NCBI36
NG_008690.1:g.78088_78089delinsAT
NG_008690.2:g.118896_118897delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-84_970-83delinsAT MANE Select	ENSP00000448059.1:n.970-84_970-83delinsAT
ENST00000307000.7:c.955-84_955-83delinsAT	ENSP00000303500.2:n.955-84_955-83delinsAT
ENST00000549247.6:n.729-84_729-83delinsAT
ENST00000551114.2:n.632-84_632-83delinsAT
ENST00000553106.5:c.970-84_970-83delinsAT	ENSP00000448059.1:n.970-84_970-83delinsAT
ENST00000635477.1:c.74-84_74-83delinsAT
ENST00000635528.1:n.485-84_485-83delinsAT
NM_000277.1:c.970-84_970-83delinsAT	NP_000268.1:n.970-84_970-83delinsAT
XM_011538422.1:c.913-84_913-83delinsAT	XP_011536724.1:n.913-84_913-83delinsAT
NM_000277.2:c.970-84_970-83delinsAT	NP_000268.1:n.970-84_970-83delinsAT
NM_001354304.1:c.970-84_970-83delinsAT	NP_001341233.1:n.970-84_970-83delinsAT
NM_000277.3:c.970-84_970-83delinsAT MANE Select	NP_000268.1:n.970-84_970-83delinsAT
NM_001354304.2:c.970-84_970-83delinsAT	NP_001341233.1:n.970-84_970-83delinsAT