Canonical Allele Identifier: CA3946544

Gene: SOBP

Linked Data

• dbSNP Id: rs748118923
• ExAC: 6:107955653 GCCCATC / G
• gnomAD v2: 6-107955653-GCCCATC-G
• gnomAD v3: 6-107634449-GCCCATC-G
• gnomAD v4: 6-107634449-GCCCATC-G
• MyVariant Identifiers: chr6:g.107955654_107955659del (hg19) ; chr6:g.107634450_107634455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634464_107634469del , CM000668.2:g.107634464_107634469del	GRCh38
NC_000006.11:g.107955668_107955673del , CM000668.1:g.107955668_107955673del	GRCh37
NC_000006.10:g.108062361_108062366del	NCBI36
NG_028200.1:g.149352_149357del
NG_028200.2:g.149352_149357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1620_1625del MANE Select	ENSP00000318900.5:p.Ile541_Pro542del
ENST00000317357.9:c.1620_1625del	ENSP00000318900.5:p.Ile541_Pro542del
NM_018013.3:c.1620_1625del	NP_060483.3:p.Ile541_Pro542del
XM_005267041.3:c.1773_1778del	XP_005267098.1:p.Ile592_Pro593del
XM_005267042.3:c.1677_1682del	XP_005267099.1:p.Ile560_Pro561del
XM_011535920.1:c.1773_1778del	XP_011534222.1:p.Ile592_Pro593del
XM_011535921.1:c.1659_1664del	XP_011534223.1:p.Ile554_Pro555del
XM_011535922.1:c.1032_1037del	XP_011534224.1:p.Ile345_Pro346del
XM_011535923.1:c.843_848del	XP_011534225.1:p.Ile282_Pro283del
XM_005267041.4:c.1773_1778del	XP_005267098.1:p.Ile592_Pro593del
XM_005267042.4:c.1677_1682del	XP_005267099.1:p.Ile560_Pro561del
XM_011535920.2:c.1773_1778del	XP_011534222.1:p.Ile592_Pro593del
XM_011535921.2:c.1659_1664del	XP_011534223.1:p.Ile554_Pro555del
XM_011535923.2:c.843_848del	XP_011534225.1:p.Ile282_Pro283del
XM_017010991.1:c.1173_1178del	XP_016866480.1:p.Ile392_Pro393del
XM_017010992.1:c.1173_1178del	XP_016866481.1:p.Ile392_Pro393del
XM_017010993.1:c.1173_1178del	XP_016866482.1:p.Ile392_Pro393del
XM_017010994.1:c.1173_1178del	XP_016866483.1:p.Ile392_Pro393del
NM_018013.4:c.1620_1625del MANE Select	NP_060483.3:p.Ile541_Pro542del