Canonical Allele Identifier: CA682813686
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1555205593
MyVariant Identifiers: chr12:g.103259861_103259862insAAGAAAA (hg19) chr12:g.102866083_102866084insAAGAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866085_102866086insGAAAAAA , CM000674.2:g.102866085_102866086insGAAAAAA GRCh38
NC_000012.11:g.103259863_103259864insGAAAAAA , CM000674.1:g.103259863_103259864insGAAAAAA GRCh37
NC_000012.10:g.101783993_101783994insGAAAAAA NCBI36
NG_008690.1:g.56519_56520insTTTTCTT
NG_008690.2:g.97327_97328insTTTTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+512_509+513insTTTTCTT MANE Select ENSP00000448059.1:n.509+512_509+513insTTTTCTT
ENST00000307000.7:c.494+512_494+513insTTTTCTT ENSP00000303500.2:n.494+512_494+513insTTTTCTT
ENST00000549111.5:n.605+512_605+513insTTTTCTT
ENST00000551988.5:n.531-10752_531-10751insTTTTCTT
ENST00000553106.5:c.509+512_509+513insTTTTCTT ENSP00000448059.1:n.509+512_509+513insTTTTCTT
NM_000277.1:c.509+512_509+513insTTTTCTT NP_000268.1:n.509+512_509+513insTTTTCTT
XM_011538422.1:c.509+512_509+513insTTTTCTT XP_011536724.1:n.509+512_509+513insTTTTCTT
NM_000277.2:c.509+512_509+513insTTTTCTT NP_000268.1:n.509+512_509+513insTTTTCTT
NM_001354304.1:c.509+512_509+513insTTTTCTT NP_001341233.1:n.509+512_509+513insTTTTCTT
XM_017019370.2:c.509+512_509+513insTTTTCTT XP_016874859.1:n.509+512_509+513insTTTTCTT
NM_000277.3:c.509+512_509+513insTTTTCTT MANE Select NP_000268.1:n.509+512_509+513insTTTTCTT
NM_001354304.2:c.509+512_509+513insTTTTCTT NP_001341233.1:n.509+512_509+513insTTTTCTT
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