Canonical Allele Identifier: CA569564367

Gene: SOBP

Linked Data

• dbSNP Id: rs1243372526
• gnomAD v2: 6-107955758-C-CGCG
• gnomAD v4: 6-107634554-C-CGCG
• MyVariant Identifiers: chr6:g.107955758_107955759insGCG (hg19) ; chr6:g.107634554_107634555insGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634562_107634564dup , CM000668.2:g.107634562_107634564dup	GRCh38
NC_000006.11:g.107955766_107955768dup , CM000668.1:g.107955766_107955768dup	GRCh37
NC_000006.10:g.108062459_108062461dup	NCBI36
NG_028200.1:g.149450_149452dup
NG_028200.2:g.149450_149452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1718_1720dup MANE Select	ENSP00000318900.5:p.Ala573_Gly574insAla
ENST00000317357.9:c.1718_1720dup	ENSP00000318900.5:p.Ala573_Gly574insAla
NM_018013.3:c.1718_1720dup	NP_060483.3:p.Ala573_Gly574insAla
XM_005267041.3:c.1871_1873dup	XP_005267098.1:p.Ala624_Gly625insAla
XM_005267042.3:c.1775_1777dup	XP_005267099.1:p.Ala592_Gly593insAla
XM_011535920.1:c.1871_1873dup	XP_011534222.1:p.Ala624_Gly625insAla
XM_011535921.1:c.1757_1759dup	XP_011534223.1:p.Ala586_Gly587insAla
XM_011535922.1:c.1130_1132dup	XP_011534224.1:p.Ala377_Gly378insAla
XM_011535923.1:c.941_943dup	XP_011534225.1:p.Ala314_Gly315insAla
XM_005267041.4:c.1871_1873dup	XP_005267098.1:p.Ala624_Gly625insAla
XM_005267042.4:c.1775_1777dup	XP_005267099.1:p.Ala592_Gly593insAla
XM_011535920.2:c.1871_1873dup	XP_011534222.1:p.Ala624_Gly625insAla
XM_011535921.2:c.1757_1759dup	XP_011534223.1:p.Ala586_Gly587insAla
XM_011535923.2:c.941_943dup	XP_011534225.1:p.Ala314_Gly315insAla
XM_017010991.1:c.1271_1273dup	XP_016866480.1:p.Ala424_Gly425insAla
XM_017010992.1:c.1271_1273dup	XP_016866481.1:p.Ala424_Gly425insAla
XM_017010993.1:c.1271_1273dup	XP_016866482.1:p.Ala424_Gly425insAla
XM_017010994.1:c.1271_1273dup	XP_016866483.1:p.Ala424_Gly425insAla
NM_018013.4:c.1718_1720dup MANE Select	NP_060483.3:p.Ala573_Gly574insAla