Canonical Allele Identifier: CA1428575456

Gene: P3H2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995675_189995680delinsCAAGAA , CM000665.2:g.189995675_189995680delinsCAAGAA	GRCh38
NC_000003.11:g.189713464_189713469delinsCAAGAA , CM000665.1:g.189713464_189713469delinsCAAGAA	GRCh37
NC_000003.10:g.191196158_191196163delinsCAAGAA	NCBI36
NG_031929.1:g.131758_131763delinsTTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-238_481-233delinsTTCTTG MANE Select	ENSP00000316881.5:n.481-238_481-233delinsTTCTTG
ENST00000319332.9:c.481-238_481-233delinsTTCTTG	ENSP00000316881.5:n.481-238_481-233delinsTTCTTG
ENST00000426003.1:c.-63-238_-63-233delinsTTCTTG	ENSP00000394326.1:n.-63-238_-63-233delinsTTCTTG
ENST00000427335.6:c.-63-238_-63-233delinsTTCTTG	ENSP00000408947.2:n.-63-238_-63-233delinsTTCTTG
ENST00000444866.5:c.-63-238_-63-233delinsTTCTTG	ENSP00000391374.1:n.-63-238_-63-233delinsTTCTTG
NM_001134418.1:c.-63-238_-63-233delinsTTCTTG	NP_001127890.1:n.-63-238_-63-233delinsTTCTTG
NM_018192.3:c.481-238_481-233delinsTTCTTG	NP_060662.2:n.481-238_481-233delinsTTCTTG
XM_011512955.1:c.-63-238_-63-233delinsTTCTTG	XP_011511257.1:n.-63-238_-63-233delinsTTCTTG
NM_018192.4:c.481-238_481-233delinsTTCTTG MANE Select	NP_060662.2:n.481-238_481-233delinsTTCTTG
NM_001134418.2:c.-63-238_-63-233delinsTTCTTG	NP_001127890.1:n.-63-238_-63-233delinsTTCTTG