Canonical Allele Identifier: CA2059448671
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844477_102844494delinsTTTATGTGTCACCTTGAC , CM000674.2:g.102844477_102844494delinsTTTATGTGTCACCTTGAC GRCh38
NC_000012.11:g.103238255_103238272delinsTTTATGTGTCACCTTGAC , CM000674.1:g.103238255_103238272delinsTTTATGTGTCACCTTGAC GRCh37
NC_000012.10:g.101762385_101762402delinsTTTATGTGTCACCTTGAC NCBI36
NG_008690.1:g.78109_78126delinsGTCAAGGTGACACATAAA
NG_008690.2:g.118917_118934delinsGTCAAGGTGACACATAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-63_970-46delinsGTCAAGGTGACACATAAA MANE Select ENSP00000448059.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
ENST00000307000.7:c.955-63_955-46delinsGTCAAGGTGACACATAAA ENSP00000303500.2:n.955-63_955-46delinsGTCAAGGTGACACATAAA
ENST00000549247.6:n.729-63_729-46delinsGTCAAGGTGACACATAAA
ENST00000551114.2:n.632-63_632-46delinsGTCAAGGTGACACATAAA
ENST00000553106.5:c.970-63_970-46delinsGTCAAGGTGACACATAAA ENSP00000448059.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
ENST00000635477.1:c.74-63_74-46delinsGTCAAGGTGACACATAAA
ENST00000635528.1:n.485-63_485-46delinsGTCAAGGTGACACATAAA
NM_000277.1:c.970-63_970-46delinsGTCAAGGTGACACATAAA NP_000268.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
XM_011538422.1:c.913-63_913-46delinsGTCAAGGTGACACATAAA XP_011536724.1:n.913-63_913-46delinsGTCAAGGTGACACATAAA
NM_000277.2:c.970-63_970-46delinsGTCAAGGTGACACATAAA NP_000268.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
NM_001354304.1:c.970-63_970-46delinsGTCAAGGTGACACATAAA NP_001341233.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
NM_000277.3:c.970-63_970-46delinsGTCAAGGTGACACATAAA MANE Select NP_000268.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
NM_001354304.2:c.970-63_970-46delinsGTCAAGGTGACACATAAA NP_001341233.1:n.970-63_970-46delinsGTCAAGGTGACACATAAA
Search 100 bp 5'
Search 100 bp 3'