Canonical Allele Identifier: CA2036268522

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914127_51914128delinsAG , CM000674.2:g.51914127_51914128delinsAG	GRCh38
NC_000012.11:g.52307911_52307912delinsAG , CM000674.1:g.52307911_52307912delinsAG	GRCh37
NC_000012.10:g.50594178_50594179delinsAG	NCBI36
NG_009549.1:g.11710_11711delinsAG , LRG_543:g.11710_11711delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-312_356-311delinsAG	ENSP00000446724.2:n.356-312_356-311delinsAG
ENST00000551576.6:c.625+54_625+55delinsAG	ENSP00000455848.2:n.625+54_625+55delinsAG
ENST00000552678.2:c.625+54_625+55delinsAG	ENSP00000457394.2:n.625+54_625+55delinsAG
ENST00000388922.9:c.625+54_625+55delinsAG MANE Select	ENSP00000373574.4:n.625+54_625+55delinsAG
ENST00000388922.8:c.625+54_625+55delinsAG	ENSP00000373574.4:n.625+54_625+55delinsAG
ENST00000419526.6:c.104-312_104-311delinsAG	ENSP00000392492.2:n.104-312_104-311delinsAG
ENST00000547400.5:c.356-312_356-311delinsAG	ENSP00000446724.1:n.356-312_356-311delinsAG
ENST00000550683.5:c.667+54_667+55delinsAG	ENSP00000447884.1:n.667+54_667+55delinsAG
NM_000020.2:c.625+54_625+55delinsAG , LRG_543t1:c.625+54_625+55delinsAG	NP_000011.2:n.625+54_625+55delinsAG
NM_001077401.1:c.625+54_625+55delinsAG	NP_001070869.1:n.625+54_625+55delinsAG
XM_005269235.2:c.625+54_625+55delinsAG	XP_005269292.1:n.625+54_625+55delinsAG
XM_011539008.1:c.356-312_356-311delinsAG	XP_011537310.1:n.356-312_356-311delinsAG
XM_024449279.1:c.-164-312_-164-311delinsAG	XP_024305047.1:n.-164-312_-164-311delinsAG
NM_000020.3:c.625+54_625+55delinsAG MANE Select	NP_000011.2:n.625+54_625+55delinsAG
NM_001077401.2:c.625+54_625+55delinsAG	NP_001070869.1:n.625+54_625+55delinsAG