Canonical Allele Identifier: CA2580617609

Gene: UBE2A STEEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119565280del , CM000685.2:g.119565280del	GRCh38
NC_000023.10:g.118699243del , CM000685.1:g.118699243del	GRCh37
NC_000023.9:g.118583271del	NCBI36
NG_016378.1:g.5158del

Transcript Alleles

HGVS	Amino-acid Change
NM_022101.4:c.79del (STEEP1) MANE Select	NP_071384.1:p.Leu27SerfsTer13
ENST00000644802.2:c.79del (STEEP1) MANE Select	ENSP00000494123.2:p.Leu27SerfsTer13
NM_001170569.1:c.-176del (STEEP1)	NP_001164040.1:n.-176del
NM_001170570.1:c.79del (STEEP1)	NP_001164041.1:p.Leu27SerfsTer13
NM_001170570.2:c.79del (STEEP1)	NP_001164041.1:p.Leu27SerfsTer13
NM_022101.3:c.79del (STEEP1)	NP_071384.1:p.Leu27SerfsTer13
ENST00000320339.8:c.-176del (STEEP1)	ENSP00000320345.4:n.-176del
ENST00000536133.2:c.79del (STEEP1)	ENSP00000441786.1:p.Leu27SerfsTer13
ENST00000696533.1:c.-157-8363del (UBE2A)	ENSP00000512694.1:n.-157-8363del
ENST00000696539.1:c.-375-7669del (UBE2A)	ENSP00000512700.1:n.-375-7669del