Canonical Allele Identifier: CA2977854957

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913348_51913349insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA , CM000674.2:g.51913348_51913349insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	GRCh38
NC_000012.11:g.52307132_52307133insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA , CM000674.1:g.52307132_52307133insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	GRCh37
NC_000012.10:g.50593399_50593400insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	NCBI36
NG_009549.1:g.10931_10932insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA , LRG_543:g.10931_10932insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.353_354insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000446724.2:p.Leu117_Glu118insAspValProSerSerThrArgAspT...
ENST00000551576.6:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000455848.2:p.Leu103_Glu104insAspValProSerSerThrArgAspT...
ENST00000552678.2:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000457394.2:p.Leu103_Glu104insAspValProSerSerThrArgAspT...
ENST00000388922.9:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA MANE Select	ENSP00000373574.4:p.Leu103_Glu104insAspValProSerSerThrArgAspT...
ENST00000388922.8:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000373574.4:p.Leu103_Glu104insAspValProSerSerThrArgAspT...
ENST00000419526.6:c.103+813_103+814insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000392492.2:n.103+813_103+814insCGTACCCTCCAGCACCAGGGACA...
ENST00000547400.5:c.353_354insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000446724.1:p.Leu117_Glu118insAspValProSerSerThrArgAspT...
ENST00000550683.5:c.353_354insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	ENSP00000447884.1:p.Leu117_Glu118insAspValProSerSerThrArgAspT...
NM_000020.2:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA , LRG_543t1:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	NP_000011.2:p.Leu103_Glu104insAspValProSerSerThrArgAspThrLeuT...
NM_001077401.1:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	NP_001070869.1:p.Leu103_Glu104insAspValProSerSerThrArgAspThrL...
XM_005269235.2:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	XP_005269292.1:p.Leu103_Glu104insAspValProSerSerThrArgAspThrL...
XM_011539008.1:c.353_354insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	XP_011537310.1:p.Leu117_Glu118insAspValProSerSerThrArgAspThrL...
XM_024449279.1:c.-379_-378insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	XP_024305047.1:n.-379_-378insCGTACCCTCCAGCACCAGGGACACGTTGTGGT...
NM_000020.3:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA MANE Select	NP_000011.2:p.Leu103_Glu104insAspValProSerSerThrArgAspThrLeuT...
NM_001077401.2:c.311_312insCGTACCCTCCAGCACCAGGGACACGTTGTGGTTGCTGGA	NP_001070869.1:p.Leu103_Glu104insAspValProSerSerThrArgAspThrL...