Canonical Allele Identifier: CA242471475

Gene: PAH

Linked Data

• dbSNP Id: rs761898042
• gnomAD v3: 12-102852721-GACCAGCCAGCAATGA-G
• gnomAD v4: 12-102852721-GACCAGCCAGCAATGA-G
• MyVariant Identifiers: chr12:g.103246500_103246514del (hg19) ; chr12:g.102852722_102852736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852725_102852739del , CM000674.2:g.102852725_102852739del	GRCh38
NC_000012.11:g.103246503_103246517del , CM000674.1:g.103246503_103246517del	GRCh37
NC_000012.10:g.101770633_101770647del	NCBI36
NG_008690.1:g.69867_69881del
NG_008690.2:g.110675_110689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+79_842+93del MANE Select	ENSP00000448059.1:n.842+79_842+93del
ENST00000307000.7:c.827+79_827+93del	ENSP00000303500.2:n.827+79_827+93del
ENST00000549247.6:n.601+79_601+93del
ENST00000553106.5:c.842+79_842+93del	ENSP00000448059.1:n.842+79_842+93del
ENST00000635477.1:c.3+79_3+93del
NM_000277.1:c.842+79_842+93del	NP_000268.1:n.842+79_842+93del
XM_011538422.1:c.842+79_842+93del	XP_011536724.1:n.842+79_842+93del
NM_000277.2:c.842+79_842+93del	NP_000268.1:n.842+79_842+93del
NM_001354304.1:c.842+79_842+93del	NP_001341233.1:n.842+79_842+93del
NM_000277.3:c.842+79_842+93del MANE Select	NP_000268.1:n.842+79_842+93del
NM_001354304.2:c.842+79_842+93del	NP_001341233.1:n.842+79_842+93del