Canonical Allele Identifier: CA2663288512

Gene: OBSL1

Linked Data

• gnomAD v4: 2-219557313-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219557316del , CM000664.2:g.219557316del	GRCh38
NC_000002.11:g.220422038del , CM000664.1:g.220422038del	GRCh37
NC_000002.10:g.220130282del	NCBI36
NG_016977.1:g.19233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000404537.6:c.4066+29del MANE Select	ENSP00000385636.1:n.4066+29del
ENST00000373876.5:c.3790+509del	ENSP00000362983.1:n.3790+509del
ENST00000404537.5:c.4066+29del	ENSP00000385636.1:n.4066+29del
ENST00000456147.1:c.771+509del
ENST00000465149.1:n.3297+29del
ENST00000603926.5:c.4066+29del	ENSP00000474519.1:n.4066+29del
ENST00000604031.5:c.672+509del
NM_001173431.1:c.4066+29del	NP_001166902.1:n.4066+29del
NM_015311.2:c.4066+29del	NP_056126.1:n.4066+29del
XM_005246424.3:c.3790+509del	XP_005246481.1:n.3790+509del
XM_005246427.3:c.3514+509del	XP_005246484.1:n.3514+509del
XM_011510854.1:c.4066+29del	XP_011509156.1:n.4066+29del
XM_011510855.1:c.4066+29del	XP_011509157.1:n.4066+29del
XM_011510856.1:c.4066+29del	XP_011509158.1:n.4066+29del
XM_011510857.1:c.4066+29del	XP_011509159.1:n.4066+29del
XM_011510858.1:c.4066+29del	XP_011509160.1:n.4066+29del
XM_011510859.1:c.3790+509del	XP_011509161.1:n.3790+509del
XM_011510860.1:c.3790+29del	XP_011509162.1:n.3790+29del
XM_011510861.1:c.3514+509del	XP_011509163.1:n.3514+509del
XM_011510862.1:c.4066+29del	XP_011509164.1:n.4066+29del
XM_011510863.1:c.4066+29del	XP_011509165.1:n.4066+29del
XM_011510864.1:c.4066+29del	XP_011509166.1:n.4066+29del
XM_011510865.1:c.4066+29del	XP_011509167.1:n.4066+29del
XM_011510866.1:c.3790+29del	XP_011509168.1:n.3790+29del
XM_011510857.2:c.4066+29del	XP_011509159.1:n.4066+29del
XM_011510863.3:c.4066+29del	XP_011509165.1:n.4066+29del
XM_011510864.2:c.4066+29del	XP_011509166.1:n.4066+29del
XM_011510865.2:c.4066+29del	XP_011509167.1:n.4066+29del
XM_011510866.2:c.3790+29del	XP_011509168.1:n.3790+29del
XM_017003696.2:c.4066+29del	XP_016859185.1:n.4066+29del
XM_017003697.2:c.4066+29del	XP_016859186.1:n.4066+29del
XM_017003698.1:c.3790+509del	XP_016859187.1:n.3790+509del
XM_017003699.1:c.3790+29del	XP_016859188.1:n.3790+29del
XM_017003700.1:c.3514+509del	XP_016859189.1:n.3514+509del
NM_015311.3:c.4066+29del MANE Select	NP_056126.1:n.4066+29del
NM_001173431.2:c.4066+29del	NP_001166902.1:n.4066+29del