Canonical Allele Identifier: CA2036267975

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913766_51913767delinsTG , CM000674.2:g.51913766_51913767delinsTG	GRCh38
NC_000012.11:g.52307550_52307551delinsTG , CM000674.1:g.52307550_52307551delinsTG	GRCh37
NC_000012.10:g.50593817_50593818delinsTG	NCBI36
NG_009549.1:g.11349_11350delinsTG , LRG_543:g.11349_11350delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+416_355+417delinsTG	ENSP00000446724.2:n.355+416_355+417delinsTG
ENST00000551576.6:c.521_522delinsTG	ENSP00000455848.2:p.Leu174=
ENST00000552678.2:c.521_522delinsTG	ENSP00000457394.2:p.Leu174=
ENST00000388922.9:c.521_522delinsTG MANE Select	ENSP00000373574.4:p.Leu174=
ENST00000388922.8:c.521_522delinsTG	ENSP00000373574.4:p.Leu174=
ENST00000419526.6:c.104-673_104-672delinsTG	ENSP00000392492.2:n.104-673_104-672delinsTG
ENST00000547400.5:c.355+416_355+417delinsTG	ENSP00000446724.1:n.355+416_355+417delinsTG
ENST00000550683.5:c.563_564delinsTG	ENSP00000447884.1:p.Leu188=
NM_000020.2:c.521_522delinsTG , LRG_543t1:c.521_522delinsTG	NP_000011.2:p.Leu174=
NM_001077401.1:c.521_522delinsTG	NP_001070869.1:p.Leu174=
XM_005269235.2:c.521_522delinsTG	XP_005269292.1:p.Leu174=
XM_011539008.1:c.355+416_355+417delinsTG	XP_011537310.1:n.355+416_355+417delinsTG
XM_024449279.1:c.-169_-168delinsTG	XP_024305047.1:n.-169_-168delinsTG
NM_000020.3:c.521_522delinsTG MANE Select	NP_000011.2:p.Leu174=
NM_001077401.2:c.521_522delinsTG	NP_001070869.1:p.Leu174=