Canonical Allele Identifier: CA8578324

Gene: COASY

Linked Data

• ClinVar Variation Id: 421057
• ClinVar RCV Id: RCV000478828 ; RCV000817149 ; RCV002298616 ; RCV003401538 ; RCV004023147 ; RCV002496865
• dbSNP Id: rs560987504
• ExAC: 17:40717494 C / CGT
• gnomAD v2: 17-40717494-C-CGT
• gnomAD v3: 17-42565476-C-CGT
• gnomAD v4: 17-42565476-C-CGT
• MyVariant Identifiers: chr17:g.40717504_40717505dupTG (hg19) ; chr17:g.40717496_40717497insGT (hg19) ; chr17:g.40717494_40717495insGT (hg19) ; chr17:g.42565486_42565487dupTG (hg38) ; chr17:g.42565476_42565477insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42565486_42565487dup , CM000679.2:g.42565486_42565487dup	GRCh38
NC_000017.10:g.40717504_40717505dup , CM000679.1:g.40717504_40717505dup	GRCh37
NC_000017.9:g.37971030_37971031dup	NCBI36
NG_029442.1:g.3427_3428dup
NG_034110.1:g.8413_8414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393818.3:c.1403_1404dup MANE Select	ENSP00000377406.1:p.Ile469Ter
ENST00000393818.2:c.1403_1404dup	ENSP00000377406.1:p.Ile469Ter
ENST00000421097.6:c.1403_1404dup	ENSP00000393564.2:p.Ile469Ter
ENST00000590958.5:c.1490_1491dup	ENSP00000464814.1:p.Ile498Ter
ENST00000591583.1:n.25_26dup
ENST00000591753.1:n.1627_1628dup
NM_001042529.2:c.1403_1404dup	NP_001035994.1:p.Ile469Ter
NM_001042532.3:c.1490_1491dup	NP_001035997.2:p.Ile498Ter
NM_025233.6:c.1403_1404dup	NP_079509.5:p.Ile469Ter
XM_006722116.2:c.1490_1491dup	XP_006722179.1:p.Ile498Ter
XM_011525300.1:c.1403_1404dup	XP_011523602.1:p.Ile469Ter
XM_011525301.1:c.1388-120_1388-119dup	XP_011523603.1:n.1388-120_1388-119dup
XR_429926.1:n.1706_1707dup
XM_006722116.4:c.1490_1491dup	XP_006722179.1:p.Ile498Ter
XM_011525300.2:c.1403_1404dup	XP_011523602.1:p.Ile469Ter
NM_025233.7:c.1403_1404dup MANE Select	NP_079509.5:p.Ile469Ter
NM_001042529.3:c.1403_1404dup	NP_001035994.1:p.Ile469Ter
NM_001042532.4:c.1490_1491dup	NP_001035997.2:p.Ile498Ter