Canonical Allele Identifier: CA2575161266

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912428_51912429del , CM000674.2:g.51912428_51912429del	GRCh38
NC_000012.11:g.52306212_52306213del , CM000674.1:g.52306212_52306213del	GRCh37
NC_000012.10:g.50592479_50592480del	NCBI36
NG_009549.1:g.10011_10012del , LRG_543:g.10011_10012del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.-5_-4del	ENSP00000446724.2:n.-5_-4del
ENST00000551576.6:c.-5-42_-5-41del	ENSP00000455848.2:n.-5-42_-5-41del
ENST00000552678.2:c.-5-42_-5-41del	ENSP00000457394.2:n.-5-42_-5-41del
ENST00000388922.9:c.-5-42_-5-41del MANE Select	ENSP00000373574.4:n.-5-42_-5-41del
ENST00000388922.8:c.-5-42_-5-41del	ENSP00000373574.4:n.-5-42_-5-41del
ENST00000419526.6:c.-5_-4del	ENSP00000392492.2:n.-5_-4del
ENST00000547400.5:c.-5_-4del	ENSP00000446724.1:n.-5_-4del
ENST00000550683.5:c.-5_-4del	ENSP00000447884.1:n.-5_-4del
ENST00000551576.5:c.-5-42_-5-41del	ENSP00000455848.1:n.-5-42_-5-41del
NM_000020.2:c.-5-42_-5-41del , LRG_543t1:c.-5-42_-5-41del	NP_000011.2:n.-5-42_-5-41del
NM_001077401.1:c.-47_-46del	NP_001070869.1:n.-47_-46del
XM_005269235.2:c.-5-42_-5-41del	XP_005269292.1:n.-5-42_-5-41del
XM_011539008.1:c.-5_-4del	XP_011537310.1:n.-5_-4del
NM_000020.3:c.-5-42_-5-41del MANE Select	NP_000011.2:n.-5-42_-5-41del
NM_001077401.2:c.-47_-46del	NP_001070869.1:n.-47_-46del