Canonical Allele Identifier: CA2618856006

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51914182-GAATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914183_51914186del , CM000674.2:g.51914183_51914186del	GRCh38
NC_000012.11:g.52307967_52307970del , CM000674.1:g.52307967_52307970del	GRCh37
NC_000012.10:g.50594234_50594237del	NCBI36
NG_009549.1:g.11766_11769del , LRG_543:g.11766_11769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-256_356-253del	ENSP00000446724.2:n.356-256_356-253del
ENST00000551576.6:c.625+110_625+113del	ENSP00000455848.2:n.625+110_625+113del
ENST00000552678.2:c.625+110_625+113del	ENSP00000457394.2:n.625+110_625+113del
ENST00000388922.9:c.625+110_625+113del MANE Select	ENSP00000373574.4:n.625+110_625+113del
ENST00000388922.8:c.625+110_625+113del	ENSP00000373574.4:n.625+110_625+113del
ENST00000419526.6:c.104-256_104-253del	ENSP00000392492.2:n.104-256_104-253del
ENST00000547400.5:c.356-256_356-253del	ENSP00000446724.1:n.356-256_356-253del
ENST00000550683.5:c.667+110_667+113del	ENSP00000447884.1:n.667+110_667+113del
NM_000020.2:c.625+110_625+113del , LRG_543t1:c.625+110_625+113del	NP_000011.2:n.625+110_625+113del
NM_001077401.1:c.625+110_625+113del	NP_001070869.1:n.625+110_625+113del
XM_005269235.2:c.625+110_625+113del	XP_005269292.1:n.625+110_625+113del
XM_011539008.1:c.356-256_356-253del	XP_011537310.1:n.356-256_356-253del
XM_024449279.1:c.-164-256_-164-253del	XP_024305047.1:n.-164-256_-164-253del
NM_000020.3:c.625+110_625+113del MANE Select	NP_000011.2:n.625+110_625+113del
NM_001077401.2:c.625+110_625+113del	NP_001070869.1:n.625+110_625+113del