Canonical Allele Identifier: CA2748068650
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431976_229431977del , CM000663.2:g.229431976_229431977del GRCh38
NC_000001.10:g.229567723_229567724del , CM000663.1:g.229567723_229567724del GRCh37
NC_000001.9:g.227634346_227634347del NCBI36
NG_006672.1:g.7121_7122del , LRG_429:g.7121_7122del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.808+18_808+19del ENSP00000355644.4:n.808+18_808+19del
ENST00000684723.1:c.673+18_673+19del ENSP00000508084.1:n.673+18_673+19del
ENST00000366683.3:c.480-114_480-113del ENSP00000355644.3:n.480-114_480-113del
ENST00000366684.7:c.808+18_808+19del MANE Select ENSP00000355645.3:n.808+18_808+19del
NM_001100.3:c.808+18_808+19del , LRG_429t1:c.808+18_808+19del NP_001091.1:n.808+18_808+19del
NM_001100.4:c.808+18_808+19del MANE Select NP_001091.1:n.808+18_808+19del