Canonical Allele Identifier: CA658821284
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 552279
ClinVar RCV Id: RCV000667507
dbSNP Id: rs1555209578

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912833_102912835del , CM000674.2:g.102912833_102912835del GRCh38
NC_000012.11:g.103306611_103306613del , CM000674.1:g.103306611_103306613del GRCh37
NC_000012.10:g.101830741_101830743del NCBI36
NG_008690.1:g.9768_9770del
NG_008690.2:g.50576_50578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.124_126del MANE Select ENSP00000448059.1:p.Lys42del
ENST00000307000.7:c.109_111del ENSP00000303500.2:p.Lys37del
ENST00000546844.1:c.124_126del ENSP00000446658.1:p.Lys42del
ENST00000548677.2:n.211_213del
ENST00000548928.1:n.46_48del
ENST00000549111.5:n.220_222del
ENST00000550978.6:c.108_110del
ENST00000551337.5:c.124_126del ENSP00000447620.1:p.Lys42del
ENST00000551988.5:n.213_215del
ENST00000553106.5:c.124_126del ENSP00000448059.1:p.Lys42del
ENST00000635500.1:n.92_94del
NM_000277.1:c.124_126del NP_000268.1:p.Lys42del
XM_011538422.1:c.124_126del XP_011536724.1:p.Lys42del
NM_000277.2:c.124_126del NP_000268.1:p.Lys42del
NM_001354304.1:c.124_126del NP_001341233.1:p.Lys42del
XM_017019370.2:c.124_126del XP_016874859.1:p.Lys42del
NM_000277.3:c.124_126del MANE Select NP_000268.1:p.Lys42del
NM_001354304.2:c.124_126del NP_001341233.1:p.Lys42del