Canonical Allele Identifier: CA2574605295

Gene: ACTA2 STAMBPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88948744_88948745del , CM000672.2:g.88948744_88948745del	GRCh38
NC_000010.10:g.90708501_90708502del , CM000672.1:g.90708501_90708502del	GRCh37
NC_000010.9:g.90698481_90698482del	NCBI36
NG_011541.1:g.47646_47647del , LRG_781:g.47646_47647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.129+57_129+58del (ACTA2)	ENSP00000396730.2:n.129+57_129+58del
ENST00000458159.6:c.129+57_129+58del (ACTA2)	ENSP00000398239.2:n.129+57_129+58del
ENST00000480297.6:n.195+57_195+58del (ACTA2)
ENST00000482085.2:n.252_253del (ACTA2)
ENST00000224784.10:c.129+57_129+58del (ACTA2) MANE Select	ENSP00000224784.6:n.129+57_129+58del
ENST00000371927.7:c.1255-24438_1255-24437del (STAMBPL1)	ENSP00000360995.3:n.1255-24438_1255-24437del
ENST00000415557.1:c.129+57_129+58del (ACTA2)	ENSP00000396730.1:n.129+57_129+58del
ENST00000458159.5:c.129+57_129+58del (ACTA2)	ENSP00000398239.1:n.129+57_129+58del
ENST00000458208.5:c.129+57_129+58del (ACTA2)	ENSP00000402373.1:n.129+57_129+58del
ENST00000480297.5:n.169+57_169+58del (ACTA2)
ENST00000482085.1:n.252_253del (ACTA2)
ENST00000488967.5:n.195+57_195+58del (ACTA2)
NM_001141945.1:c.129+57_129+58del , LRG_781t2:c.129+57_129+58del (ACTA2)	NP_001135417.1:n.129+57_129+58del
NM_001613.2:c.129+57_129+58del , LRG_781t1:c.129+57_129+58del (ACTA2)	NP_001604.1:n.129+57_129+58del
XM_011540016.1:c.129+57_129+58del (ACTA2)	XP_011538318.1:n.129+57_129+58del
NM_001141945.2:c.129+57_129+58del (ACTA2)	NP_001135417.1:n.129+57_129+58del
NM_001320855.1:c.129+57_129+58del (ACTA2)	NP_001307784.1:n.129+57_129+58del
NM_001613.3:c.129+57_129+58del (ACTA2)	NP_001604.1:n.129+57_129+58del
NM_001613.4:c.129+57_129+58del (ACTA2) MANE Select	NP_001604.1:n.129+57_129+58del