Canonical Allele Identifier: CA2788920359

Gene: ACTA2 FAS

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88989508_88989514del , CM000672.2:g.88989508_88989514del	GRCh38
NC_000010.10:g.90749265_90749271del , CM000672.1:g.90749265_90749271del	GRCh37
NC_000010.9:g.90739245_90739251del	NCBI36
NG_009089.2:g.3978_3984del , LRG_134:g.3978_3984del
NG_011541.1:g.6877_6883del , LRG_781:g.6877_6883del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.-24+1425_-24+1431del (ACTA2)	ENSP00000396730.2:n.-24+1425_-24+1431del
ENST00000458159.6:c.-24+1508_-24+1514del (ACTA2)	ENSP00000398239.2:n.-24+1508_-24+1514del
ENST00000696723.1:n.3592_3598del (FAS)
ENST00000696992.1:n.1076_1082del (FAS)
ENST00000688239.1:n.300_306del (FAS)
ENST00000690268.1:c.40_46del (FAS)	ENSP00000509810.1:p.Leu14MetfsTer7
ENST00000415557.1:c.-24+1425_-24+1431del (ACTA2)	ENSP00000396730.1:n.-24+1425_-24+1431del
ENST00000458159.5:c.-24+1508_-24+1514del (ACTA2)	ENSP00000398239.1:n.-24+1508_-24+1514del
ENST00000458208.5:c.-24+1425_-24+1431del (ACTA2)	ENSP00000402373.1:n.-24+1425_-24+1431del
NM_001141945.1:c.-24+1425_-24+1431del , LRG_781t2:c.-24+1425_-24+1431del (ACTA2)	NP_001135417.1:n.-24+1425_-24+1431del
XM_006717819.2:c.40_46del (FAS)	XP_006717882.1:p.Leu14MetfsTer7
XM_011539764.1:c.121_127del (FAS)	XP_011538066.1:p.Leu41MetfsTer7
XM_011539765.1:c.121_127del (FAS)	XP_011538067.1:p.Leu41MetfsTer7
XM_011539766.1:c.40_46del (FAS)	XP_011538068.1:p.Leu14MetfsTer7
XM_011540016.1:c.-24+1508_-24+1514del (ACTA2)	XP_011538318.1:n.-24+1508_-24+1514del
XR_945732.1:n.136_142del (FAS)
XR_945733.1:n.136_142del (FAS)
NM_001141945.2:c.-24+1425_-24+1431del (ACTA2)	NP_001135417.1:n.-24+1425_-24+1431del
NM_001320855.1:c.-24+1508_-24+1514del (ACTA2)	NP_001307784.1:n.-24+1508_-24+1514del
XM_006717819.3:c.40_46del (FAS)	XP_006717882.1:p.Leu14MetfsTer7
XM_011539764.2:c.121_127del (FAS)	XP_011538066.1:p.Leu41MetfsTer7
XM_011539765.2:c.121_127del (FAS)	XP_011538067.1:p.Leu41MetfsTer7
XM_011539766.2:c.40_46del (FAS)	XP_011538068.1:p.Leu14MetfsTer7
XR_945732.3:n.136_142del (FAS)
XR_945733.2:n.136_142del (FAS)