Canonical Allele Identifier: CA2618856057

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51914212-CTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914217_51914260del , CM000674.2:g.51914217_51914260del	GRCh38
NC_000012.11:g.52308001_52308044del , CM000674.1:g.52308001_52308044del	GRCh37
NC_000012.10:g.50594268_50594311del	NCBI36
NG_009549.1:g.11800_11843del , LRG_543:g.11800_11843del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-222_356-179del	ENSP00000446724.2:n.356-222_356-179del
ENST00000551576.6:c.625+144_626-179del	ENSP00000455848.2:n.625+144_626-179del
ENST00000552678.2:c.625+144_626-179del	ENSP00000457394.2:n.625+144_626-179del
ENST00000388922.9:c.625+144_626-179del MANE Select	ENSP00000373574.4:n.625+144_626-179del
ENST00000388922.8:c.625+144_626-179del	ENSP00000373574.4:n.625+144_626-179del
ENST00000419526.6:c.104-222_104-179del	ENSP00000392492.2:n.104-222_104-179del
ENST00000547400.5:c.356-222_356-179del	ENSP00000446724.1:n.356-222_356-179del
ENST00000550683.5:c.667+144_668-179del	ENSP00000447884.1:n.667+144_668-179del
NM_000020.2:c.625+144_626-179del , LRG_543t1:c.625+144_626-179del	NP_000011.2:n.625+144_626-179del
NM_001077401.1:c.625+144_626-179del	NP_001070869.1:n.625+144_626-179del
XM_005269235.2:c.625+144_626-179del	XP_005269292.1:n.625+144_626-179del
XM_011539008.1:c.356-222_356-179del	XP_011537310.1:n.356-222_356-179del
XM_024449279.1:c.-164-222_-164-179del	XP_024305047.1:n.-164-222_-164-179del
NM_000020.3:c.625+144_626-179del MANE Select	NP_000011.2:n.625+144_626-179del
NM_001077401.2:c.625+144_626-179del	NP_001070869.1:n.625+144_626-179del