Canonical Allele Identifier: CA682818860
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1327412780
gnomAD v3: 12-102917011-ATC-A
gnomAD v4: 12-102917011-ATC-A
MyVariant Identifiers: chr12:g.103310790_103310791del (hg19) chr12:g.102917012_102917013del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917015_102917016del , CM000674.2:g.102917015_102917016del GRCh38
NC_000012.11:g.103310793_103310794del , CM000674.1:g.103310793_103310794del GRCh37
NC_000012.10:g.101834923_101834924del NCBI36
NG_008690.1:g.5590_5591del
NG_008690.2:g.46398_46399del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+58_60+59del MANE Select ENSP00000448059.1:n.60+58_60+59del
ENST00000307000.7:c.-88+58_-88+59del ENSP00000303500.2:n.-88+58_-88+59del
ENST00000546844.1:c.60+58_60+59del ENSP00000446658.1:n.60+58_60+59del
ENST00000547319.1:n.371+58_371+59del
ENST00000549111.5:n.156+58_156+59del
ENST00000550978.6:c.44+58_44+59del
ENST00000551337.5:c.60+58_60+59del ENSP00000447620.1:n.60+58_60+59del
ENST00000551988.5:n.149+58_149+59del
ENST00000553106.5:c.60+58_60+59del ENSP00000448059.1:n.60+58_60+59del
ENST00000635500.1:n.29-4115_29-4114del
NM_000277.1:c.60+58_60+59del NP_000268.1:n.60+58_60+59del
XM_011538422.1:c.60+58_60+59del XP_011536724.1:n.60+58_60+59del
NM_000277.2:c.60+58_60+59del NP_000268.1:n.60+58_60+59del
NM_001354304.1:c.60+58_60+59del NP_001341233.1:n.60+58_60+59del
XM_017019370.2:c.60+58_60+59del XP_016874859.1:n.60+58_60+59del
NM_000277.3:c.60+58_60+59del MANE Select NP_000268.1:n.60+58_60+59del
NM_001354304.2:c.60+58_60+59del NP_001341233.1:n.60+58_60+59del
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