Canonical Allele Identifier: CA607159475
Gene: PAH HGNC NCBI

Linked Data

gnomAD v2: 12-103288208-A-AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAAAAATT
MyVariant Identifiers: chr12:g.103288208_103288209insAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAAAAATT (hg19) chr12:g.102894430_102894431insAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAAAAATT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894441_102894442insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAA , CM000674.2:g.102894441_102894442insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAA GRCh38
NC_000012.11:g.103288219_103288220insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAA , CM000674.1:g.103288219_103288220insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAA GRCh37
NC_000012.10:g.101812349_101812350insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAA NCBI36
NG_008690.1:g.28172_28173insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
NG_008690.2:g.68980_68981insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000448059.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTT...
ENST00000307000.7:c.337+304_337+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000303500.2:n.337+304_337+305insAATTTTTATTTTTTTTTATTTTT...
ENST00000548928.1:n.274+304_274+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000549111.5:n.448+304_448+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000550978.6:c.336+304_336+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000551337.5:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000447620.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTT...
ENST00000551988.5:n.441+304_441+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000553106.5:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000448059.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTT...
NM_000277.1:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_000268.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTT...
XM_011538422.1:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT XP_011536724.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTT...
NM_000277.2:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_000268.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTT...
NM_001354304.1:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_001341233.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTT...
XM_017019370.2:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016874859.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTT...
NM_000277.3:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_000268.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTT...
NM_001354304.2:c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_001341233.1:n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTT...
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