Canonical Allele Identifier: CA7000821

Gene: DIS3 BORA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72755194C>T , CM000675.2:g.72755194C>T	GRCh38
NC_000013.10:g.73329332C>T , CM000675.1:g.73329332C>T	GRCh37
NC_000013.9:g.72227333C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014953.5:c.*4601G>A (DIS3) MANE Select	NP_055768.3:n.*4601G>A
NM_024808.5:c.1658C>T (BORA) MANE Select	NP_079084.4:p.Pro553Leu
ENST00000377767.9:c.*4601G>A (DIS3) MANE Select	ENSP00000366997.4:n.*4601G>A
ENST00000390667.11:c.1658C>T (BORA) MANE Select	ENSP00000375082.6:p.Pro553Leu
NM_001128226.3:c.*4601G>A (DIS3)	NP_001121698.1:n.*4601G>A
NM_001286746.1:c.1883C>T (BORA)	NP_001273675.1:p.Pro628Leu
NM_001286746.2:c.1658C>T (BORA)	NP_001273675.2:p.Pro553Leu
NM_001286746.3:c.1658C>T (BORA)	NP_001273675.2:p.Pro553Leu
NM_001286747.1:c.1448C>T (BORA)	NP_001273676.1:p.Pro483Leu
NM_001286747.2:c.1448C>T (BORA)	NP_001273676.1:p.Pro483Leu
NM_001322348.2:c.*4601G>A (DIS3)	NP_001309277.1:n.*4601G>A
NM_001322349.2:c.*4601G>A (DIS3)	NP_001309278.1:n.*4601G>A
NM_001366664.1:c.1505C>T (BORA)	NP_001353593.1:p.Pro502Leu
NM_001366664.2:c.1505C>T (BORA)	NP_001353593.1:p.Pro502Leu
NM_024808.3:c.1838C>T (BORA)	NP_079084.3:p.Pro613Leu
NM_024808.4:c.1658C>T (BORA)	NP_079084.4:p.Pro553Leu
ENST00000377767.8:c.*4601G>A (DIS3)	ENSP00000366997.4:n.*4601G>A
ENST00000377815.4:c.1448C>T (BORA)	ENSP00000367046.3:p.Pro483Leu
ENST00000390667.9:c.1838C>T (BORA)	ENSP00000375082.5:p.Pro613Leu
ENST00000613797.4:c.1883C>T (BORA)	ENSP00000479266.1:p.Pro628Leu
ENST00000651376.1:c.*1389C>T (BORA)	ENSP00000499159.1:n.*1389C>T
ENST00000651477.1:c.1658C>T (BORA)	ENSP00000498664.1:p.Pro553Leu
ENST00000652266.1:c.1448C>T (BORA)	ENSP00000498882.1:p.Pro483Leu
XM_006719868.2:c.1685C>T (BORA)	XP_006719931.2:p.Pro562Leu