Canonical Allele Identifier: CA2663686027

Gene: SAG

Linked Data

• gnomAD v4: 2-233346826-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346831del , CM000664.2:g.233346831del	GRCh38
NC_000002.11:g.234255477del , CM000664.1:g.234255477del	GRCh37
NC_000002.10:g.233920216del	NCBI36
NG_009116.1:g.44169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1137del MANE Select	ENSP00000386444.1:p.Phe379LeufsTer9
ENST00000409110.5:c.1137del	ENSP00000386444.1:p.Phe379LeufsTer9
ENST00000412969.6:n.2357del
ENST00000471884.5:n.3168del
ENST00000474220.5:n.343del
ENST00000476500.5:n.6436del
ENST00000492629.1:n.98del
NM_000541.4:c.1137del	NP_000532.2:p.Phe379LeufsTer9
XM_011511589.1:c.1137del	XP_011509891.1:p.Phe379LeufsTer9
XM_011511590.1:c.1137del	XP_011509892.1:p.Phe379LeufsTer9
XM_011511591.1:c.*5del	XP_011509893.1:n.*5del
XM_011511592.1:c.981del	XP_011509894.1:p.Phe327LeufsTer9
XM_011511593.1:c.837del	XP_011509895.1:p.Phe279LeufsTer9
XM_011511594.1:c.765del	XP_011509896.1:p.Phe255LeufsTer9
XM_011511596.1:c.735del	XP_011509898.1:p.Phe245LeufsTer9
XM_011511597.1:c.735del	XP_011509899.1:p.Phe245LeufsTer9
XR_922978.1:n.1454del
XR_922979.1:n.1458del
XR_922980.1:n.1553del
XM_011511593.3:c.837del	XP_011509895.1:p.Phe279LeufsTer9
XM_017004641.1:c.*5del	XP_016860130.1:n.*5del
XM_024453036.1:c.*5del	XP_024308804.1:n.*5del
XR_001738882.1:n.1335del
XR_922980.2:n.1553del
NM_000541.5:c.1137del MANE Select	NP_000532.2:p.Phe379LeufsTer9