Canonical Allele Identifier: CA689766504
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1252551593
gnomAD v3: 12-51915486-G-GCATCGCCGACCTGGGTGAGC
gnomAD v4: 12-51915486-G-GCATCGCCGACCTGGGTGAGC
MyVariant Identifiers: chr12:g.52309270_52309271insCATCGCCGACCTGGGTGAGC (hg19) chr12:g.51915486_51915487insCATCGCCGACCTGGGTGAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915488_51915507dup , CM000674.2:g.51915488_51915507dup GRCh38
NC_000012.11:g.52309272_52309291dup , CM000674.1:g.52309272_52309291dup GRCh37
NC_000012.10:g.50595539_50595558dup NCBI36
NG_009549.1:g.13071_13090dup , LRG_543:g.13071_13090dup

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.766_778+7dup
ENST00000551576.6:c.1036_1048+7dup
ENST00000552678.2:c.1036_1048+7dup
ENST00000388922.9:c.1036_1048+7dup
ENST00000388922.8:c.1036_1048+7dup
ENST00000419526.6:c.514_526+7dup
ENST00000550683.5:c.1078_1090+7dup
ENST00000552678.1:c.41_53+7dup
NM_000020.2:c.1036_1048+7dup , LRG_543t1:c.1036_1048+7dup
NM_001077401.1:c.1036_1048+7dup
XM_005269235.2:c.1036_1048+7dup
XM_011539008.1:c.766_778+7dup
XM_024449279.1:c.247_259+7dup
NM_000020.3:c.1036_1048+7dup
NM_001077401.2:c.1036_1048+7dup
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