Canonical Allele Identifier: CA2610073380

Gene: ACTA2 STAMBPL1

Linked Data

• gnomAD v4: 10-88940742-TATTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88940743_88940746del , CM000672.2:g.88940743_88940746del	GRCh38
NC_000010.10:g.90700500_90700503del , CM000672.1:g.90700500_90700503del	GRCh37
NC_000010.9:g.90690480_90690483del	NCBI36
NG_011541.1:g.55645_55648del , LRG_781:g.55645_55648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.616+483_616+486del (ACTA2)	ENSP00000396730.2:n.616+483_616+486del
ENST00000458159.6:c.616+483_616+486del (ACTA2)	ENSP00000398239.2:n.616+483_616+486del
ENST00000480297.6:n.1165_1168del (ACTA2)
ENST00000224784.10:c.616+483_616+486del (ACTA2) MANE Select	ENSP00000224784.6:n.616+483_616+486del
ENST00000371927.7:c.1254+18307_1254+18310del (STAMBPL1)	ENSP00000360995.3:n.1254+18307_1254+18310del
ENST00000458208.5:c.616+483_616+486del (ACTA2)	ENSP00000402373.1:n.616+483_616+486del
NM_001141945.1:c.616+483_616+486del , LRG_781t2:c.616+483_616+486del (ACTA2)	NP_001135417.1:n.616+483_616+486del
NM_001613.2:c.616+483_616+486del , LRG_781t1:c.616+483_616+486del (ACTA2)	NP_001604.1:n.616+483_616+486del
XM_011540016.1:c.616+483_616+486del (ACTA2)	XP_011538318.1:n.616+483_616+486del
NM_001141945.2:c.616+483_616+486del (ACTA2)	NP_001135417.1:n.616+483_616+486del
NM_001320855.1:c.616+483_616+486del (ACTA2)	NP_001307784.1:n.616+483_616+486del
NM_001613.3:c.616+483_616+486del (ACTA2)	NP_001604.1:n.616+483_616+486del
NM_001613.4:c.616+483_616+486del (ACTA2) MANE Select	NP_001604.1:n.616+483_616+486del