Canonical Allele Identifier: CA2543300396

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844716_102844717insTGACTCA , CM000674.2:g.102844716_102844717insTGACTCA	GRCh38
NC_000012.11:g.103238494_103238495insTGACTCA , CM000674.1:g.103238494_103238495insTGACTCA	GRCh37
NC_000012.10:g.101762624_101762625insTGACTCA	NCBI36
NG_008690.1:g.77886_77887insTGAGTCA
NG_008690.2:g.118694_118695insTGAGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-286_970-285insTGAGTCA MANE Select	ENSP00000448059.1:n.970-286_970-285insTGAGTCA
ENST00000307000.7:c.955-286_955-285insTGAGTCA	ENSP00000303500.2:n.955-286_955-285insTGAGTCA
ENST00000549247.6:n.729-286_729-285insTGAGTCA
ENST00000551114.2:n.632-286_632-285insTGAGTCA
ENST00000553106.5:c.970-286_970-285insTGAGTCA	ENSP00000448059.1:n.970-286_970-285insTGAGTCA
ENST00000635477.1:c.74-286_74-285insTGAGTCA
ENST00000635528.1:n.485-286_485-285insTGAGTCA
NM_000277.1:c.970-286_970-285insTGAGTCA	NP_000268.1:n.970-286_970-285insTGAGTCA
XM_011538422.1:c.913-286_913-285insTGAGTCA	XP_011536724.1:n.913-286_913-285insTGAGTCA
NM_000277.2:c.970-286_970-285insTGAGTCA	NP_000268.1:n.970-286_970-285insTGAGTCA
NM_001354304.1:c.970-286_970-285insTGAGTCA	NP_001341233.1:n.970-286_970-285insTGAGTCA
NM_000277.3:c.970-286_970-285insTGAGTCA MANE Select	NP_000268.1:n.970-286_970-285insTGAGTCA
NM_001354304.2:c.970-286_970-285insTGAGTCA	NP_001341233.1:n.970-286_970-285insTGAGTCA