Canonical Allele Identifier: CA2620509904

Gene: PAH

Linked Data

• gnomAD v4: 12-102847128-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847131del , CM000674.2:g.102847131del	GRCh38
NC_000012.11:g.103240909del , CM000674.1:g.103240909del	GRCh37
NC_000012.10:g.101765039del	NCBI36
NG_008690.1:g.75474del
NG_008690.2:g.116282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-178del MANE Select	ENSP00000448059.1:n.913-178del
ENST00000307000.7:c.898-178del	ENSP00000303500.2:n.898-178del
ENST00000549247.6:n.672-178del
ENST00000551114.2:n.575-178del
ENST00000553106.5:c.913-178del	ENSP00000448059.1:n.913-178del
ENST00000635477.1:c.74-2698del
ENST00000635528.1:n.250del
NM_000277.1:c.913-178del	NP_000268.1:n.913-178del
XM_011538422.1:c.913-2698del	XP_011536724.1:n.913-2698del
NM_000277.2:c.913-178del	NP_000268.1:n.913-178del
NM_001354304.1:c.913-178del	NP_001341233.1:n.913-178del
NM_000277.3:c.913-178del MANE Select	NP_000268.1:n.913-178del
NM_001354304.2:c.913-178del	NP_001341233.1:n.913-178del