Canonical Allele Identifier: CA2562453525

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914179_51914180insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC , CM000674.2:g.51914179_51914180insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	GRCh38
NC_000012.11:g.52307963_52307964insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC , CM000674.1:g.52307963_52307964insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	GRCh37
NC_000012.10:g.50594230_50594231insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	NCBI36
NG_009549.1:g.11762_11763insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC , LRG_543:g.11762_11763insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-260_356-259insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000446724.2:n.356-260_356-259insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000551576.6:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000455848.2:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000552678.2:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000457394.2:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000388922.9:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC MANE Select	ENSP00000373574.4:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000388922.8:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000373574.4:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000419526.6:c.104-260_104-259insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000392492.2:n.104-260_104-259insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000547400.5:c.356-260_356-259insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000446724.1:n.356-260_356-259insTTGCCCCCCTGCACTCAGGGCTC...
ENST00000550683.5:c.667+106_667+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	ENSP00000447884.1:n.667+106_667+107insTTGCCCCCCTGCACTCAGGGCTC...
NM_000020.2:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC , LRG_543t1:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	NP_000011.2:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTT...
NM_001077401.1:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	NP_001070869.1:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAG...
XM_005269235.2:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	XP_005269292.1:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAG...
XM_011539008.1:c.356-260_356-259insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	XP_011537310.1:n.356-260_356-259insTTGCCCCCCTGCACTCAGGGCTCAAG...
XM_024449279.1:c.-164-260_-164-259insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	XP_024305047.1:n.-164-260_-164-259insTTGCCCCCCTGCACTCAGGGCTCA...
NM_000020.3:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC MANE Select	NP_000011.2:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTT...
NM_001077401.2:c.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTC	NP_001070869.1:n.625+106_625+107insTTGCCCCCCTGCACTCAGGGCTCAAG...