Canonical Allele Identifier: CA2036242347

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921184_51921185delinsAG , CM000674.2:g.51921184_51921185delinsAG	GRCh38
NC_000012.11:g.52314968_52314969delinsAG , CM000674.1:g.52314968_52314969delinsAG	GRCh37
NC_000012.10:g.50601235_50601236delinsAG	NCBI36
NG_009549.1:g.18767_18768delinsAG , LRG_543:g.18767_18768delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*291_*292delinsAG	ENSP00000455848.2:n.*291_*292delinsAG
ENST00000388922.9:c.*291_*292delinsAG MANE Select	ENSP00000373574.4:n.*291_*292delinsAG
ENST00000419526.6:c.*291_*292delinsAG	ENSP00000392492.2:n.*291_*292delinsAG
ENST00000550683.5:c.*291_*292delinsAG	ENSP00000447884.1:n.*291_*292delinsAG
NM_000020.2:c.*291_*292delinsAG , LRG_543t1:c.*291_*292delinsAG	NP_000011.2:n.*291_*292delinsAG
NM_001077401.1:c.*291_*292delinsAG	NP_001070869.1:n.*291_*292delinsAG
XM_005269235.2:c.*291_*292delinsAG	XP_005269292.1:n.*291_*292delinsAG
XM_011539008.1:c.*291_*292delinsAG	XP_011537310.1:n.*291_*292delinsAG
XM_024449279.1:c.*291_*292delinsAG	XP_024305047.1:n.*291_*292delinsAG
NM_000020.3:c.*291_*292delinsAG MANE Select	NP_000011.2:n.*291_*292delinsAG
NM_001077401.2:c.*291_*292delinsAG	NP_001070869.1:n.*291_*292delinsAG