Canonical Allele Identifier: CA2036268521

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940768786
• gnomAD v4: 12-51914125-GGAGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914131_51914137del , CM000674.2:g.51914131_51914137del	GRCh38
NC_000012.11:g.52307915_52307921del , CM000674.1:g.52307915_52307921del	GRCh37
NC_000012.10:g.50594182_50594188del	NCBI36
NG_009549.1:g.11714_11720del , LRG_543:g.11714_11720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-308_356-302del	ENSP00000446724.2:n.356-308_356-302del
ENST00000551576.6:c.625+58_625+64del	ENSP00000455848.2:n.625+58_625+64del
ENST00000552678.2:c.625+58_625+64del	ENSP00000457394.2:n.625+58_625+64del
ENST00000388922.9:c.625+58_625+64del MANE Select	ENSP00000373574.4:n.625+58_625+64del
ENST00000388922.8:c.625+58_625+64del	ENSP00000373574.4:n.625+58_625+64del
ENST00000419526.6:c.104-308_104-302del	ENSP00000392492.2:n.104-308_104-302del
ENST00000547400.5:c.356-308_356-302del	ENSP00000446724.1:n.356-308_356-302del
ENST00000550683.5:c.667+58_667+64del	ENSP00000447884.1:n.667+58_667+64del
NM_000020.2:c.625+58_625+64del , LRG_543t1:c.625+58_625+64del	NP_000011.2:n.625+58_625+64del
NM_001077401.1:c.625+58_625+64del	NP_001070869.1:n.625+58_625+64del
XM_005269235.2:c.625+58_625+64del	XP_005269292.1:n.625+58_625+64del
XM_011539008.1:c.356-308_356-302del	XP_011537310.1:n.356-308_356-302del
XM_024449279.1:c.-164-308_-164-302del	XP_024305047.1:n.-164-308_-164-302del
NM_000020.3:c.625+58_625+64del MANE Select	NP_000011.2:n.625+58_625+64del
NM_001077401.2:c.625+58_625+64del	NP_001070869.1:n.625+58_625+64del