Canonical Allele Identifier: CA2661558846

Gene: ACVR1

Linked Data

• gnomAD v4: 2-157760872-ATACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157760877_157760880del , CM000664.2:g.157760877_157760880del	GRCh38
NC_000002.11:g.158617389_158617392del , CM000664.1:g.158617389_158617392del	GRCh37
NC_000002.10:g.158325635_158325638del	NCBI36
NG_008004.1:g.119236_119239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681995.1:n.863+4_863+7del
ENST00000682025.1:c.1264+4_1264+7del
ENST00000682300.1:c.1264+4_1264+7del
ENST00000682690.1:n.1281+4_1281+7del
ENST00000683404.1:c.1268_1268+3del
ENST00000683426.1:c.1264+4_1264+7del
ENST00000683441.1:c.1264+4_1264+7del
ENST00000683487.1:c.1264+4_1264+7del
ENST00000683820.1:c.1264+4_1264+7del
ENST00000684104.1:n.1472+4_1472+7del
ENST00000684348.1:c.1264+4_1264+7del
ENST00000684567.1:n.509+4_509+7del
ENST00000684595.1:c.1264+4_1264+7del
ENST00000424669.6:c.1264+4_1264+7del
ENST00000434821.7:c.1264+4_1264+7del
ENST00000539637.6:c.1264+4_1264+7del
ENST00000672582.1:c.1264+4_1264+7del
ENST00000673324.1:c.1264+4_1264+7del
ENST00000263640.7:c.1264+4_1264+7del
ENST00000409283.6:c.1264+4_1264+7del
ENST00000410057.6:c.1264+4_1264+7del
ENST00000434821.5:c.1264+4_1264+7del
NM_001105.4:c.1264+4_1264+7del
NM_001111067.2:c.1264+4_1264+7del
XM_005246939.2:c.1264+4_1264+7del
XM_005246940.2:c.1264+4_1264+7del
XM_006712825.2:c.1264+4_1264+7del
XM_011512106.1:c.1264+4_1264+7del
XM_011512107.1:c.1264+4_1264+7del
XM_011512108.1:c.1264+4_1264+7del
NM_001347663.1:c.1264+4_1264+7del
NM_001347664.1:c.1264+4_1264+7del
NM_001347665.1:c.1264+4_1264+7del
NM_001347666.1:c.1264+4_1264+7del
NM_001347667.1:c.1264+4_1264+7del
XM_006712825.4:c.1264+4_1264+7del
XM_011512108.3:c.1264+4_1264+7del
NM_001105.5:c.1264+4_1264+7del
NM_001111067.4:c.1264+4_1264+7del
NM_001347667.2:c.1264+4_1264+7del