Canonical Allele Identifier: CA2620508240

Gene: PAH

Linked Data

• gnomAD v4: 12-102844298-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844299del , CM000674.2:g.102844299del	GRCh38
NC_000012.11:g.103238077del , CM000674.1:g.103238077del	GRCh37
NC_000012.10:g.101762207del	NCBI36
NG_008690.1:g.78304del
NG_008690.2:g.119112del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1065+37del MANE Select	ENSP00000448059.1:n.1065+37del
ENST00000307000.7:c.1050+37del	ENSP00000303500.2:n.1050+37del
ENST00000549247.6:n.824+37del
ENST00000551114.2:n.727+37del
ENST00000553106.5:c.1065+37del	ENSP00000448059.1:n.1065+37del
ENST00000635477.1:c.169+37del
ENST00000635528.1:n.580+37del
NM_000277.1:c.1065+37del	NP_000268.1:n.1065+37del
XM_011538422.1:c.1008+37del	XP_011536724.1:n.1008+37del
NM_000277.2:c.1065+37del	NP_000268.1:n.1065+37del
NM_001354304.1:c.1065+37del	NP_001341233.1:n.1065+37del
NM_000277.3:c.1065+37del MANE Select	NP_000268.1:n.1065+37del
NM_001354304.2:c.1065+37del	NP_001341233.1:n.1065+37del