Canonical Allele Identifier: CA2618858992
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915708_51915709insTG , CM000674.2:g.51915708_51915709insTG GRCh38
NC_000012.11:g.52309492_52309493insTG , CM000674.1:g.52309492_52309493insTG GRCh37
NC_000012.10:g.50595759_50595760insTG NCBI36
NG_009549.1:g.13291_13292insTG , LRG_543:g.13291_13292insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.778+208_778+209insTG ENSP00000446724.2:n.778+208_778+209insTG
ENST00000551576.6:c.1048+208_1048+209insTG ENSP00000455848.2:n.1048+208_1048+209insTG
ENST00000552678.2:c.1048+208_1048+209insTG ENSP00000457394.2:n.1048+208_1048+209insTG
ENST00000388922.9:c.1048+208_1048+209insTG MANE Select ENSP00000373574.4:n.1048+208_1048+209insTG
ENST00000388922.8:c.1048+208_1048+209insTG ENSP00000373574.4:n.1048+208_1048+209insTG
ENST00000419526.6:c.526+208_526+209insTG ENSP00000392492.2:n.526+208_526+209insTG
ENST00000550683.5:c.1090+208_1090+209insTG ENSP00000447884.1:n.1090+208_1090+209insTG
ENST00000552678.1:c.53+208_53+209insTG
NM_000020.2:c.1048+208_1048+209insTG , LRG_543t1:c.1048+208_1048+209insTG NP_000011.2:n.1048+208_1048+209insTG
NM_001077401.1:c.1048+208_1048+209insTG NP_001070869.1:n.1048+208_1048+209insTG
XM_005269235.2:c.1048+208_1048+209insTG XP_005269292.1:n.1048+208_1048+209insTG
XM_011539008.1:c.778+208_778+209insTG XP_011537310.1:n.778+208_778+209insTG
XM_024449279.1:c.259+208_259+209insTG XP_024305047.1:n.259+208_259+209insTG
NM_000020.3:c.1048+208_1048+209insTG MANE Select NP_000011.2:n.1048+208_1048+209insTG
NM_001077401.2:c.1048+208_1048+209insTG NP_001070869.1:n.1048+208_1048+209insTG