Canonical Allele Identifier: CA2618860403

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920915-TCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920924_51921022del , CM000674.2:g.51920924_51921022del	GRCh38
NC_000012.11:g.52314708_52314806del , CM000674.1:g.52314708_52314806del	GRCh37
NC_000012.10:g.50600975_50601073del	NCBI36
NG_009549.1:g.18507_18605del , LRG_543:g.18507_18605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*31_*129del	ENSP00000455848.2:n.*31_*129del
ENST00000388922.9:c.*31_*129del MANE Select	ENSP00000373574.4:n.*31_*129del
ENST00000388922.8:c.*31_*129del	ENSP00000373574.4:n.*31_*129del
ENST00000419526.6:c.*31_*129del	ENSP00000392492.2:n.*31_*129del
ENST00000550683.5:c.*31_*129del	ENSP00000447884.1:n.*31_*129del
NM_000020.2:c.*31_*129del , LRG_543t1:c.*31_*129del	NP_000011.2:n.*31_*129del
NM_001077401.1:c.*31_*129del	NP_001070869.1:n.*31_*129del
XM_005269235.2:c.*31_*129del	XP_005269292.1:n.*31_*129del
XM_011539008.1:c.*31_*129del	XP_011537310.1:n.*31_*129del
XM_024449279.1:c.*31_*129del	XP_024305047.1:n.*31_*129del
NM_000020.3:c.*31_*129del MANE Select	NP_000011.2:n.*31_*129del
NM_001077401.2:c.*31_*129del	NP_001070869.1:n.*31_*129del