Canonical Allele Identifier: CA2036269548

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915473_51915494delinsAACCTGCAGTGTTGCATCGCCG , CM000674.2:g.51915473_51915494delinsAACCTGCAGTGTTGCATCGCCG	GRCh38
NC_000012.11:g.52309257_52309278delinsAACCTGCAGTGTTGCATCGCCG , CM000674.1:g.52309257_52309278delinsAACCTGCAGTGTTGCATCGCCG	GRCh37
NC_000012.10:g.50595524_50595545delinsAACCTGCAGTGTTGCATCGCCG	NCBI36
NG_009549.1:g.13056_13077delinsAACCTGCAGTGTTGCATCGCCG , LRG_543:g.13056_13077delinsAACCTGCAGTGTTGCATCGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.751_772delinsAACCTGCAGTGTTGCATCGCCG	ENSP00000446724.2:p.Asn251=
ENST00000551576.6:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	ENSP00000455848.2:p.Asn341=
ENST00000552678.2:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	ENSP00000457394.2:p.Asn341=
ENST00000388922.9:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG MANE Select	ENSP00000373574.4:p.Asn341=
ENST00000388922.8:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	ENSP00000373574.4:p.Asn341=
ENST00000419526.6:c.499_520delinsAACCTGCAGTGTTGCATCGCCG	ENSP00000392492.2:p.Asn167=
ENST00000550683.5:c.1063_1084delinsAACCTGCAGTGTTGCATCGCCG	ENSP00000447884.1:p.Asn355=
ENST00000552678.1:c.26_47delinsAACCTGCAGTGTTGCATCGCCG
NM_000020.2:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG , LRG_543t1:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	NP_000011.2:p.Asn341=
NM_001077401.1:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	NP_001070869.1:p.Asn341=
XM_005269235.2:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	XP_005269292.1:p.Asn341=
XM_011539008.1:c.751_772delinsAACCTGCAGTGTTGCATCGCCG	XP_011537310.1:p.Asn251=
XM_024449279.1:c.232_253delinsAACCTGCAGTGTTGCATCGCCG	XP_024305047.1:p.Asn78=
NM_000020.3:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG MANE Select	NP_000011.2:p.Asn341=
NM_001077401.2:c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG	NP_001070869.1:p.Asn341=