Canonical Allele Identifier: CA2618858054

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913402-CCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913405_51913408del , CM000674.2:g.51913405_51913408del	GRCh38
NC_000012.11:g.52307189_52307192del , CM000674.1:g.52307189_52307192del	GRCh37
NC_000012.10:g.50593456_50593459del	NCBI36
NG_009549.1:g.10988_10991del , LRG_543:g.10988_10991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+55_355+58del	ENSP00000446724.2:n.355+55_355+58del
ENST00000551576.6:c.313+55_313+58del	ENSP00000455848.2:n.313+55_313+58del
ENST00000552678.2:c.313+55_313+58del	ENSP00000457394.2:n.313+55_313+58del
ENST00000388922.9:c.313+55_313+58del MANE Select	ENSP00000373574.4:n.313+55_313+58del
ENST00000388922.8:c.313+55_313+58del	ENSP00000373574.4:n.313+55_313+58del
ENST00000419526.6:c.103+870_103+873del	ENSP00000392492.2:n.103+870_103+873del
ENST00000547400.5:c.355+55_355+58del	ENSP00000446724.1:n.355+55_355+58del
ENST00000550683.5:c.355+55_355+58del	ENSP00000447884.1:n.355+55_355+58del
NM_000020.2:c.313+55_313+58del , LRG_543t1:c.313+55_313+58del	NP_000011.2:n.313+55_313+58del
NM_001077401.1:c.313+55_313+58del	NP_001070869.1:n.313+55_313+58del
XM_005269235.2:c.313+55_313+58del	XP_005269292.1:n.313+55_313+58del
XM_011539008.1:c.355+55_355+58del	XP_011537310.1:n.355+55_355+58del
XM_024449279.1:c.-377+55_-377+58del	XP_024305047.1:n.-377+55_-377+58del
NM_000020.3:c.313+55_313+58del MANE Select	NP_000011.2:n.313+55_313+58del
NM_001077401.2:c.313+55_313+58del	NP_001070869.1:n.313+55_313+58del