Canonical Allele Identifier: CA605052900

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919399_51919404dup , CM000674.2:g.51919399_51919404dup	GRCh38
NC_000012.11:g.52313183_52313188dup , CM000674.1:g.52313183_52313188dup	GRCh37
NC_000012.10:g.50599450_50599455dup	NCBI36
NG_009549.1:g.16982_16987dup , LRG_543:g.16982_16987dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1377+284_1377+289dup MANE Select	NP_000011.2:n.1377+284_1377+289dup
ENST00000388922.9:c.1377+284_1377+289dup MANE Select	ENSP00000373574.4:n.1377+284_1377+289dup
NM_000020.2:c.1377+284_1377+289dup , LRG_543t1:c.1377+284_1377+289dup	NP_000011.2:n.1377+284_1377+289dup
NM_001077401.1:c.1377+284_1377+289dup	NP_001070869.1:n.1377+284_1377+289dup
NM_001077401.2:c.1377+284_1377+289dup	NP_001070869.1:n.1377+284_1377+289dup
ENST00000388922.8:c.1377+284_1377+289dup	ENSP00000373574.4:n.1377+284_1377+289dup
ENST00000419526.6:c.855+284_855+289dup	ENSP00000392492.2:n.855+284_855+289dup
ENST00000547400.6:c.1107+284_1107+289dup	ENSP00000446724.2:n.1107+284_1107+289dup
ENST00000550683.5:c.1419+284_1419+289dup	ENSP00000447884.1:n.1419+284_1419+289dup
ENST00000551576.6:c.1377+284_1377+289dup	ENSP00000455848.2:n.1377+284_1377+289dup
ENST00000552678.2:c.*176_*181dup	ENSP00000457394.2:n.*176_*181dup
XM_005269235.2:c.1377+284_1377+289dup	XP_005269292.1:n.1377+284_1377+289dup
XM_011539008.1:c.1107+284_1107+289dup	XP_011537310.1:n.1107+284_1107+289dup
XM_024449279.1:c.588+284_588+289dup	XP_024305047.1:n.588+284_588+289dup