Canonical Allele Identifier: CA2036269415

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915217_51915218delinsGC , CM000674.2:g.51915217_51915218delinsGC	GRCh38
NC_000012.11:g.52309001_52309002delinsGC , CM000674.1:g.52309001_52309002delinsGC	GRCh37
NC_000012.10:g.50595268_50595269delinsGC	NCBI36
NG_009549.1:g.12800_12801delinsGC , LRG_543:g.12800_12801delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.503-8_503-7delinsGC	ENSP00000446724.2:n.503-8_503-7delinsGC
ENST00000551576.6:c.773-8_773-7delinsGC	ENSP00000455848.2:n.773-8_773-7delinsGC
ENST00000552678.2:c.773-8_773-7delinsGC	ENSP00000457394.2:n.773-8_773-7delinsGC
ENST00000388922.9:c.773-8_773-7delinsGC MANE Select	ENSP00000373574.4:n.773-8_773-7delinsGC
ENST00000388922.8:c.773-8_773-7delinsGC	ENSP00000373574.4:n.773-8_773-7delinsGC
ENST00000419526.6:c.251-8_251-7delinsGC	ENSP00000392492.2:n.251-8_251-7delinsGC
ENST00000550683.5:c.815-8_815-7delinsGC	ENSP00000447884.1:n.815-8_815-7delinsGC
NM_000020.2:c.773-8_773-7delinsGC , LRG_543t1:c.773-8_773-7delinsGC	NP_000011.2:n.773-8_773-7delinsGC
NM_001077401.1:c.773-8_773-7delinsGC	NP_001070869.1:n.773-8_773-7delinsGC
XM_005269235.2:c.773-8_773-7delinsGC	XP_005269292.1:n.773-8_773-7delinsGC
XM_011539008.1:c.503-8_503-7delinsGC	XP_011537310.1:n.503-8_503-7delinsGC
XM_024449279.1:c.-17-8_-17-7delinsGC	XP_024305047.1:n.-17-8_-17-7delinsGC
NM_000020.3:c.773-8_773-7delinsGC MANE Select	NP_000011.2:n.773-8_773-7delinsGC
NM_001077401.2:c.773-8_773-7delinsGC	NP_001070869.1:n.773-8_773-7delinsGC