Canonical Allele Identifier: CA2036269551

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915477_51915514delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG , CM000674.2:g.51915477_51915514delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG	GRCh38
NC_000012.11:g.52309261_52309298delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG , CM000674.1:g.52309261_52309298delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG	GRCh37
NC_000012.10:g.50595528_50595565delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG	NCBI36
NG_009549.1:g.13060_13097delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG , LRG_543:g.13060_13097delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.755_778+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000551576.6:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000552678.2:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000388922.9:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000388922.8:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000419526.6:c.503_526+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000550683.5:c.1067_1090+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
ENST00000552678.1:c.30_53+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
NM_000020.2:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG , LRG_543t1:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
NM_001077401.1:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
XM_005269235.2:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
XM_011539008.1:c.755_778+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
XM_024449279.1:c.236_259+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
NM_000020.3:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
NM_001077401.2:c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG