Canonical Allele Identifier: CA2695216669

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916048_51916055del , CM000674.2:g.51916048_51916055del	GRCh38
NC_000012.11:g.52309832_52309839del , CM000674.1:g.52309832_52309839del	GRCh37
NC_000012.10:g.50596099_50596106del	NCBI36
NG_009549.1:g.13631_13638del , LRG_543:g.13631_13638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.791_798del	ENSP00000446724.2:p.Met264ThrfsTer?
ENST00000551576.6:c.1061_1068del	ENSP00000455848.2:p.Met354ThrfsTer?
ENST00000552678.2:c.1061_1068del	ENSP00000457394.2:p.Met354ThrfsTer?
ENST00000388922.9:c.1061_1068del MANE Select	ENSP00000373574.4:p.Met354ThrfsTer?
ENST00000388922.8:c.1061_1068del	ENSP00000373574.4:p.Met354ThrfsTer?
ENST00000419526.6:c.539_546del	ENSP00000392492.2:p.Met180ThrfsTer?
ENST00000547632.1:n.336_343del
ENST00000550683.5:c.1103_1110del	ENSP00000447884.1:p.Met368ThrfsTer?
ENST00000552678.1:c.66_73del
NM_000020.2:c.1061_1068del , LRG_543t1:c.1061_1068del	NP_000011.2:p.Met354ThrfsTer?
NM_001077401.1:c.1061_1068del	NP_001070869.1:p.Met354ThrfsTer?
XM_005269235.2:c.1061_1068del	XP_005269292.1:p.Met354ThrfsTer?
XM_011539008.1:c.791_798del	XP_011537310.1:p.Met264ThrfsTer?
XM_024449279.1:c.272_279del	XP_024305047.1:p.Met91ThrfsTer?
NM_000020.3:c.1061_1068del MANE Select	NP_000011.2:p.Met354ThrfsTer?
NM_001077401.2:c.1061_1068del	NP_001070869.1:p.Met354ThrfsTer?