Canonical Allele Identifier: CA551651889

Gene: CLOCK TMEM165

Linked Data

• dbSNP Id: rs1317789344
• gnomAD v2: 4-56310036-ACC-A
• MyVariant Identifiers: chr4:g.56310037_56310038del (hg19) ; chr4:g.55443870_55443871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55443871_55443872del , CM000666.2:g.55443871_55443872del	GRCh38
NC_000004.11:g.56310038_56310039del , CM000666.1:g.56310038_56310039del	GRCh37
NC_000004.10:g.56004795_56004796del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513440.6:c.1718_1719del (CLOCK) MANE Select	ENSP00000426983.1:p.Gly573ValfsTer15
ENST00000309964.8:c.1718_1719del (CLOCK)	ENSP00000308741.4:p.Gly573ValfsTer15
ENST00000381322.5:c.1718_1719del (CLOCK)	ENSP00000370723.1:p.Gly573ValfsTer15
ENST00000506103.2:c.353-8368_353-8367del (TMEM165)
ENST00000511124.1:n.300_301del (CLOCK)
ENST00000513440.5:c.1718_1719del (CLOCK)	ENSP00000426983.1:p.Gly573ValfsTer15
ENST00000608091.1:c.409-8368_409-8367del (TMEM165)
NM_001267843.1:c.1718_1719del (CLOCK)	NP_001254772.1:p.Gly573ValfsTer15
NM_004898.3:c.1718_1719del (CLOCK)	NP_004889.1:p.Gly573ValfsTer15
XM_005265787.1:c.1718_1719del (CLOCK)	XP_005265844.1:p.Gly573ValfsTer15
XM_006714054.2:c.1718_1719del (CLOCK)	XP_006714117.1:p.Gly573ValfsTer15
XM_011534394.1:c.899-8368_899-8367del (TMEM165)	XP_011532696.1:n.899-8368_899-8367del
XM_011534409.1:c.1718_1719del (CLOCK)	XP_011532711.1:p.Gly573ValfsTer15
XM_011534410.1:c.1718_1719del (CLOCK)	XP_011532712.1:p.Gly573ValfsTer15
XM_011534411.1:c.1718_1719del (CLOCK)	XP_011532713.1:p.Gly573ValfsTer15
XM_005265787.2:c.1718_1719del (CLOCK)	XP_005265844.1:p.Gly573ValfsTer15
XM_011534394.3:c.899-8368_899-8367del (TMEM165)	XP_011532696.1:n.899-8368_899-8367del
XM_011534409.2:c.1718_1719del (CLOCK)	XP_011532711.1:p.Gly573ValfsTer15
XM_011534410.2:c.1718_1719del (CLOCK)	XP_011532712.1:p.Gly573ValfsTer15
XM_011534411.2:c.1718_1719del (CLOCK)	XP_011532713.1:p.Gly573ValfsTer15
XM_017008854.1:c.1718_1719del (CLOCK)	XP_016864343.1:p.Gly573ValfsTer15
XM_017008855.1:c.1541_1542del (CLOCK)	XP_016864344.1:p.Gly514ValfsTer15
XM_024454284.1:c.1718_1719del (CLOCK)	XP_024310052.1:p.Gly573ValfsTer15
NM_004898.4:c.1718_1719del (CLOCK) MANE Select	NP_004889.1:p.Gly573ValfsTer15
NM_001267843.2:c.1718_1719del (CLOCK)	NP_001254772.1:p.Gly573ValfsTer15