Canonical Allele Identifier: CA682830271
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1278471417
MyVariant Identifiers: chr12:g.103288753_103288754insGATGCAGAACCAGAACAGGAAAACCT (hg19) chr12:g.102894975_102894976insGATGCAGAACCAGAACAGGAAAACCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894976_102895001dup , CM000674.2:g.102894976_102895001dup GRCh38
NC_000012.11:g.103288754_103288779dup , CM000674.1:g.103288754_103288779dup GRCh37
NC_000012.10:g.101812884_101812909dup NCBI36
NG_008690.1:g.27602_27627dup
NG_008690.2:g.68410_68435dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-83_169-58dup MANE Select ENSP00000448059.1:n.169-83_169-58dup
ENST00000307000.7:c.154-83_154-58dup ENSP00000303500.2:n.154-83_154-58dup
ENST00000546844.1:c.169-83_169-58dup ENSP00000446658.1:n.169-83_169-58dup
ENST00000548677.2:n.256-83_256-58dup
ENST00000548928.1:n.91-83_91-58dup
ENST00000549111.5:n.265-83_265-58dup
ENST00000550978.6:c.153-83_153-58dup
ENST00000551337.5:c.169-83_169-58dup ENSP00000447620.1:n.169-83_169-58dup
ENST00000551988.5:n.258-83_258-58dup
ENST00000553106.5:c.169-83_169-58dup ENSP00000448059.1:n.169-83_169-58dup
ENST00000635500.1:n.137-83_137-58dup
NM_000277.1:c.169-83_169-58dup NP_000268.1:n.169-83_169-58dup
XM_011538422.1:c.169-83_169-58dup XP_011536724.1:n.169-83_169-58dup
NM_000277.2:c.169-83_169-58dup NP_000268.1:n.169-83_169-58dup
NM_001354304.1:c.169-83_169-58dup NP_001341233.1:n.169-83_169-58dup
XM_017019370.2:c.169-83_169-58dup XP_016874859.1:n.169-83_169-58dup
NM_000277.3:c.169-83_169-58dup MANE Select NP_000268.1:n.169-83_169-58dup
NM_001354304.2:c.169-83_169-58dup NP_001341233.1:n.169-83_169-58dup
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