Canonical Allele Identifier: CA572084127

Gene: CYP2W1 C7orf50

Linked Data

• dbSNP Id: rs1378415545
• gnomAD v2: 7-1022908-TGCGCCC-T
• gnomAD v4: 7-983272-TGCGCCC-T
• MyVariant Identifiers: chr7:g.1022909_1022914del (hg19) ; chr7:g.983273_983278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.983273_983278del , CM000669.2:g.983273_983278del	GRCh38
NC_000007.13:g.1022909_1022914del , CM000669.1:g.1022909_1022914del	GRCh37
NC_000007.12:g.989435_989440del	NCBI36
NG_007934.1:g.5075_5080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308919.12:c.62_67del (CYP2W1) MANE Select	ENSP00000310149.7:p.Cys21Ter
ENST00000308919.11:c.62_67del (CYP2W1)	ENSP00000310149.7:p.Cys21Ter
NM_017781.2:c.62_67del (CYP2W1)	NP_060251.2:p.Cys21Ter
XM_005249889.3:c.523-4217_523-4212del (C7orf50)	XP_005249946.2:n.523-4217_523-4212del
XM_011515440.1:c.62_67del (CYP2W1)	XP_011513742.1:p.Cys21Ter
XM_011515441.1:c.62_67del (CYP2W1)	XP_011513743.1:p.Cys21Ter
XM_011515580.1:c.1108-4217_1108-4212del (C7orf50)	XP_011513882.1:n.1108-4217_1108-4212del
XM_011515581.1:c.565-4217_565-4212del (C7orf50)	XP_011513883.1:n.565-4217_565-4212del
XM_011515582.1:c.565-4217_565-4212del (C7orf50)	XP_011513884.1:n.565-4217_565-4212del
XM_011515583.1:c.565-4217_565-4212del (C7orf50)	XP_011513885.1:n.565-4217_565-4212del
XM_011515584.1:c.565-4217_565-4212del (C7orf50)	XP_011513886.1:n.565-4217_565-4212del
NR_156697.1:n.548-4217_548-4212del (C7orf50)
XM_011515440.3:c.62_67del (CYP2W1)	XP_011513742.1:p.Cys21Ter
XM_011515441.3:c.62_67del (CYP2W1)	XP_011513743.1:p.Cys21Ter
XM_011515581.3:c.565-4217_565-4212del (C7orf50)	XP_011513883.1:n.565-4217_565-4212del
XM_011515582.3:c.565-4217_565-4212del (C7orf50)	XP_011513884.1:n.565-4217_565-4212del
XM_011515583.2:c.565-4217_565-4212del (C7orf50)	XP_011513885.1:n.565-4217_565-4212del
XM_011515584.2:c.565-4217_565-4212del (C7orf50)	XP_011513886.1:n.565-4217_565-4212del
XM_017012720.2:c.565-4217_565-4212del (C7orf50)	XP_016868209.1:n.565-4217_565-4212del
XM_017012721.2:c.523-4217_523-4212del (C7orf50)	XP_016868210.1:n.523-4217_523-4212del
NM_017781.3:c.62_67del (CYP2W1) MANE Select	NP_060251.2:p.Cys21Ter
NR_156697.2:n.548-4217_548-4212del (C7orf50)