Canonical Allele Identifier: CA551651887

Gene: CLOCK TMEM165

Linked Data

• dbSNP Id: rs1265261090
• gnomAD v2: 4-56309988-G-GAAGCA
• MyVariant Identifiers: chr4:g.56309988_56309989insAAGCA (hg19) ; chr4:g.55443821_55443822insAAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55443821_55443822insAAGCA , CM000666.2:g.55443821_55443822insAAGCA	GRCh38
NC_000004.11:g.56309988_56309989insAAGCA , CM000666.1:g.56309988_56309989insAAGCA	GRCh37
NC_000004.10:g.56004745_56004746insAAGCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513440.6:c.1767_1768insTGCTT (CLOCK) MANE Select	ENSP00000426983.1:p.Gln590CysfsTer8
ENST00000309964.8:c.1767_1768insTGCTT (CLOCK)	ENSP00000308741.4:p.Gln590CysfsTer8
ENST00000381322.5:c.1767_1768insTGCTT (CLOCK)	ENSP00000370723.1:p.Gln590CysfsTer8
ENST00000506103.2:c.353-8418_353-8417insAAGCA (TMEM165)
ENST00000511124.1:n.349_350insTGCTT (CLOCK)
ENST00000513440.5:c.1767_1768insTGCTT (CLOCK)	ENSP00000426983.1:p.Gln590CysfsTer8
ENST00000608091.1:c.409-8418_409-8417insAAGCA (TMEM165)
NM_001267843.1:c.1767_1768insTGCTT (CLOCK)	NP_001254772.1:p.Gln590CysfsTer8
NM_004898.3:c.1767_1768insTGCTT (CLOCK)	NP_004889.1:p.Gln590CysfsTer8
XM_005265787.1:c.1767_1768insTGCTT (CLOCK)	XP_005265844.1:p.Gln590CysfsTer8
XM_006714054.2:c.1767_1768insTGCTT (CLOCK)	XP_006714117.1:p.Gln590CysfsTer8
XM_011534394.1:c.899-8418_899-8417insAAGCA (TMEM165)	XP_011532696.1:n.899-8418_899-8417insAAGCA
XM_011534409.1:c.1767_1768insTGCTT (CLOCK)	XP_011532711.1:p.Gln590CysfsTer8
XM_011534410.1:c.1767_1768insTGCTT (CLOCK)	XP_011532712.1:p.Gln590CysfsTer8
XM_011534411.1:c.1767_1768insTGCTT (CLOCK)	XP_011532713.1:p.Gln590CysfsTer8
XM_005265787.2:c.1767_1768insTGCTT (CLOCK)	XP_005265844.1:p.Gln590CysfsTer8
XM_011534394.3:c.899-8418_899-8417insAAGCA (TMEM165)	XP_011532696.1:n.899-8418_899-8417insAAGCA
XM_011534409.2:c.1767_1768insTGCTT (CLOCK)	XP_011532711.1:p.Gln590CysfsTer8
XM_011534410.2:c.1767_1768insTGCTT (CLOCK)	XP_011532712.1:p.Gln590CysfsTer8
XM_011534411.2:c.1767_1768insTGCTT (CLOCK)	XP_011532713.1:p.Gln590CysfsTer8
XM_017008854.1:c.1767_1768insTGCTT (CLOCK)	XP_016864343.1:p.Gln590CysfsTer8
XM_017008855.1:c.1590_1591insTGCTT (CLOCK)	XP_016864344.1:p.Gln531CysfsTer8
XM_024454284.1:c.1767_1768insTGCTT (CLOCK)	XP_024310052.1:p.Gln590CysfsTer8
NM_004898.4:c.1767_1768insTGCTT (CLOCK) MANE Select	NP_004889.1:p.Gln590CysfsTer8
NM_001267843.2:c.1767_1768insTGCTT (CLOCK)	NP_001254772.1:p.Gln590CysfsTer8