Canonical Allele Identifier: CA2979030526
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912802_102912808del , CM000674.2:g.102912802_102912808del GRCh38
NC_000012.11:g.103306580_103306586del , CM000674.1:g.103306580_103306586del GRCh37
NC_000012.10:g.101830710_101830716del NCBI36
NG_008690.1:g.9796_9802del
NG_008690.2:g.50604_50610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.152_158del MANE Select ENSP00000448059.1:p.Val51AlafsTer8
ENST00000307000.7:c.137_143del ENSP00000303500.2:p.Val46AlafsTer8
ENST00000546844.1:c.152_158del ENSP00000446658.1:p.Val51AlafsTer8
ENST00000548677.2:n.239_245del
ENST00000548928.1:n.74_80del
ENST00000549111.5:n.248_254del
ENST00000550978.6:c.136_142del
ENST00000551337.5:c.152_158del ENSP00000447620.1:p.Val51AlafsTer8
ENST00000551988.5:n.241_247del
ENST00000553106.5:c.152_158del ENSP00000448059.1:p.Val51AlafsTer8
ENST00000635500.1:n.120_126del
NM_000277.1:c.152_158del NP_000268.1:p.Val51AlafsTer8
XM_011538422.1:c.152_158del XP_011536724.1:p.Val51AlafsTer8
NM_000277.2:c.152_158del NP_000268.1:p.Val51AlafsTer8
NM_001354304.1:c.152_158del NP_001341233.1:p.Val51AlafsTer8
XM_017019370.2:c.152_158del XP_016874859.1:p.Val51AlafsTer8
NM_000277.3:c.152_158del MANE Select NP_000268.1:p.Val51AlafsTer8
NM_001354304.2:c.152_158del NP_001341233.1:p.Val51AlafsTer8
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