Canonical Allele Identifier: CA569564372

Gene: SOBP

Linked Data

• dbSNP Id: rs1305837859
• gnomAD v2: 6-107955926-CGCCG-C
• gnomAD v4: 6-107634722-CGCCG-C
• MyVariant Identifiers: chr6:g.107955927_107955930del (hg19) ; chr6:g.107634723_107634726del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634725_107634728del , CM000668.2:g.107634725_107634728del	GRCh38
NC_000006.11:g.107955929_107955932del , CM000668.1:g.107955929_107955932del	GRCh37
NC_000006.10:g.108062622_108062625del	NCBI36
NG_028200.1:g.149613_149616del
NG_028200.2:g.149613_149616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1881_1884del MANE Select	ENSP00000318900.5:p.Gly628AlafsTer28
ENST00000317357.9:c.1881_1884del	ENSP00000318900.5:p.Gly628AlafsTer28
NM_018013.3:c.1881_1884del	NP_060483.3:p.Gly628AlafsTer28
XM_005267041.3:c.2034_2037del	XP_005267098.1:p.Gly679AlafsTer28
XM_005267042.3:c.1938_1941del	XP_005267099.1:p.Gly647AlafsTer28
XM_011535920.1:c.2034_2037del	XP_011534222.1:p.Gly679AlafsTer28
XM_011535921.1:c.1920_1923del	XP_011534223.1:p.Gly641AlafsTer28
XM_011535922.1:c.1293_1296del	XP_011534224.1:p.Gly432AlafsTer28
XM_011535923.1:c.1104_1107del	XP_011534225.1:p.Gly369AlafsTer28
XM_005267041.4:c.2034_2037del	XP_005267098.1:p.Gly679AlafsTer28
XM_005267042.4:c.1938_1941del	XP_005267099.1:p.Gly647AlafsTer28
XM_011535920.2:c.2034_2037del	XP_011534222.1:p.Gly679AlafsTer28
XM_011535921.2:c.1920_1923del	XP_011534223.1:p.Gly641AlafsTer28
XM_011535923.2:c.1104_1107del	XP_011534225.1:p.Gly369AlafsTer28
XM_017010991.1:c.1434_1437del	XP_016866480.1:p.Gly479AlafsTer28
XM_017010992.1:c.1434_1437del	XP_016866481.1:p.Gly479AlafsTer28
XM_017010993.1:c.1434_1437del	XP_016866482.1:p.Gly479AlafsTer28
XM_017010994.1:c.1434_1437del	XP_016866483.1:p.Gly479AlafsTer28
NM_018013.4:c.1881_1884del MANE Select	NP_060483.3:p.Gly628AlafsTer28