Canonical Allele Identifier: CA3946545

Gene: SOBP

Linked Data

• dbSNP Id: rs748118923
• ExAC: 6:107955653 G / GCCCATC
• gnomAD v2: 6-107955653-G-GCCCATC
• gnomAD v3: 6-107634449-G-GCCCATC
• gnomAD v4: 6-107634449-G-GCCCATC
• MyVariant Identifiers: chr6:g.107955659_107955660insCCCATC (hg19) ; chr6:g.107955653_107955654insCCCATC (hg19) ; chr6:g.107634455_107634456insCCCATC (hg38) ; chr6:g.107634449_107634450insCCCATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634464_107634469dup , CM000668.2:g.107634464_107634469dup	GRCh38
NC_000006.11:g.107955668_107955673dup , CM000668.1:g.107955668_107955673dup	GRCh37
NC_000006.10:g.108062361_108062366dup	NCBI36
NG_028200.1:g.149352_149357dup
NG_028200.2:g.149352_149357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1620_1625dup MANE Select	ENSP00000318900.5:p.Pro542_Ile543insIlePro
ENST00000317357.9:c.1620_1625dup	ENSP00000318900.5:p.Pro542_Ile543insIlePro
NM_018013.3:c.1620_1625dup	NP_060483.3:p.Pro542_Ile543insIlePro
XM_005267041.3:c.1773_1778dup	XP_005267098.1:p.Pro593_Ile594insIlePro
XM_005267042.3:c.1677_1682dup	XP_005267099.1:p.Pro561_Ile562insIlePro
XM_011535920.1:c.1773_1778dup	XP_011534222.1:p.Pro593_Ile594insIlePro
XM_011535921.1:c.1659_1664dup	XP_011534223.1:p.Pro555_Ile556insIlePro
XM_011535922.1:c.1032_1037dup	XP_011534224.1:p.Pro346_Ile347insIlePro
XM_011535923.1:c.843_848dup	XP_011534225.1:p.Pro283_Ile284insIlePro
XM_005267041.4:c.1773_1778dup	XP_005267098.1:p.Pro593_Ile594insIlePro
XM_005267042.4:c.1677_1682dup	XP_005267099.1:p.Pro561_Ile562insIlePro
XM_011535920.2:c.1773_1778dup	XP_011534222.1:p.Pro593_Ile594insIlePro
XM_011535921.2:c.1659_1664dup	XP_011534223.1:p.Pro555_Ile556insIlePro
XM_011535923.2:c.843_848dup	XP_011534225.1:p.Pro283_Ile284insIlePro
XM_017010991.1:c.1173_1178dup	XP_016866480.1:p.Pro393_Ile394insIlePro
XM_017010992.1:c.1173_1178dup	XP_016866481.1:p.Pro393_Ile394insIlePro
XM_017010993.1:c.1173_1178dup	XP_016866482.1:p.Pro393_Ile394insIlePro
XM_017010994.1:c.1173_1178dup	XP_016866483.1:p.Pro393_Ile394insIlePro
NM_018013.4:c.1620_1625dup MANE Select	NP_060483.3:p.Pro542_Ile543insIlePro