Canonical Allele Identifier: CA548498959

Gene: P3H2

Linked Data

• gnomAD v2: 3-189713363-A-ATTT
• gnomAD v3: 3-189995574-A-ATTT
• gnomAD v4: 3-189995574-A-ATTT
• MyVariant Identifiers: chr3:g.189713364_189713370delinsTTTGACAGGC (hg19) ; chr3:g.189995575_189995581delinsTTTGACAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995574_189995575insTTT , CM000665.2:g.189995574_189995575insTTT	GRCh38
NC_000003.11:g.189713363_189713364insTTT , CM000665.1:g.189713363_189713364insTTT	GRCh37
NC_000003.10:g.191196057_191196058insTTT	NCBI36
NG_031929.1:g.131863_131864insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-133_481-132insAAA MANE Select	ENSP00000316881.5:n.481-133_481-132insAAA
ENST00000319332.9:c.481-133_481-132insAAA	ENSP00000316881.5:n.481-133_481-132insAAA
ENST00000426003.1:c.-63-133_-63-132insAAA	ENSP00000394326.1:n.-63-133_-63-132insAAA
ENST00000427335.6:c.-63-133_-63-132insAAA	ENSP00000408947.2:n.-63-133_-63-132insAAA
ENST00000444866.5:c.-63-133_-63-132insAAA	ENSP00000391374.1:n.-63-133_-63-132insAAA
NM_001134418.1:c.-63-133_-63-132insAAA	NP_001127890.1:n.-63-133_-63-132insAAA
NM_018192.3:c.481-133_481-132insAAA	NP_060662.2:n.481-133_481-132insAAA
XM_011512955.1:c.-63-133_-63-132insAAA	XP_011511257.1:n.-63-133_-63-132insAAA
NM_018192.4:c.481-133_481-132insAAA MANE Select	NP_060662.2:n.481-133_481-132insAAA
NM_001134418.2:c.-63-133_-63-132insAAA	NP_001127890.1:n.-63-133_-63-132insAAA