Canonical Allele Identifier: CA2036236254

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915488_51915491delinsATCG , CM000674.2:g.51915488_51915491delinsATCG	GRCh38
NC_000012.11:g.52309272_52309275delinsATCG , CM000674.1:g.52309272_52309275delinsATCG	GRCh37
NC_000012.10:g.50595539_50595542delinsATCG	NCBI36
NG_009549.1:g.13071_13074delinsATCG , LRG_543:g.13071_13074delinsATCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.766_769delinsATCG	ENSP00000446724.2:p.Ile256=
ENST00000551576.6:c.1036_1039delinsATCG	ENSP00000455848.2:p.Ile346=
ENST00000552678.2:c.1036_1039delinsATCG	ENSP00000457394.2:p.Ile346=
ENST00000388922.9:c.1036_1039delinsATCG MANE Select	ENSP00000373574.4:p.Ile346=
ENST00000388922.8:c.1036_1039delinsATCG	ENSP00000373574.4:p.Ile346=
ENST00000419526.6:c.514_517delinsATCG	ENSP00000392492.2:p.Ile172=
ENST00000550683.5:c.1078_1081delinsATCG	ENSP00000447884.1:p.Ile360=
ENST00000552678.1:c.41_44delinsATCG
NM_000020.2:c.1036_1039delinsATCG , LRG_543t1:c.1036_1039delinsATCG	NP_000011.2:p.Ile346=
NM_001077401.1:c.1036_1039delinsATCG	NP_001070869.1:p.Ile346=
XM_005269235.2:c.1036_1039delinsATCG	XP_005269292.1:p.Ile346=
XM_011539008.1:c.766_769delinsATCG	XP_011537310.1:p.Ile256=
XM_024449279.1:c.247_250delinsATCG	XP_024305047.1:p.Ile83=
NM_000020.3:c.1036_1039delinsATCG MANE Select	NP_000011.2:p.Ile346=
NM_001077401.2:c.1036_1039delinsATCG	NP_001070869.1:p.Ile346=