Canonical Allele Identifier: CA1097466586
Gene: CYP2W1 HGNC NCBI
C7orf50 HGNC NCBI

Linked Data

dbSNP Id: rs1848075219
gnomAD v3: 7-983437-T-TGG
gnomAD v4: 7-983437-T-TGG

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.983438_983439dup , CM000669.2:g.983438_983439dup GRCh38
NC_000007.13:g.1023074_1023075dup , CM000669.1:g.1023074_1023075dup GRCh37
NC_000007.12:g.989600_989601dup NCBI36
NG_007934.1:g.5240_5241dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308919.12:c.174+53_174+54dup (CYP2W1) MANE Select ENSP00000310149.7:n.174+53_174+54dup
ENST00000308919.11:c.174+53_174+54dup (CYP2W1) ENSP00000310149.7:n.174+53_174+54dup
ENST00000340150.10:c.6+53_6+54dup (CYP2W1) ENSP00000344178.6:n.6+53_6+54dup
NM_017781.2:c.174+53_174+54dup (CYP2W1) NP_060251.2:n.174+53_174+54dup
XM_005249889.3:c.523-4378_523-4377dup (C7orf50) XP_005249946.2:n.523-4378_523-4377dup
XM_011515440.1:c.174+53_174+54dup (CYP2W1) XP_011513742.1:n.174+53_174+54dup
XM_011515441.1:c.174+53_174+54dup (CYP2W1) XP_011513743.1:n.174+53_174+54dup
XM_011515580.1:c.1108-4378_1108-4377dup (C7orf50) XP_011513882.1:n.1108-4378_1108-4377dup
XM_011515581.1:c.565-4378_565-4377dup (C7orf50) XP_011513883.1:n.565-4378_565-4377dup
XM_011515582.1:c.565-4378_565-4377dup (C7orf50) XP_011513884.1:n.565-4378_565-4377dup
XM_011515583.1:c.565-4378_565-4377dup (C7orf50) XP_011513885.1:n.565-4378_565-4377dup
XM_011515584.1:c.565-4378_565-4377dup (C7orf50) XP_011513886.1:n.565-4378_565-4377dup
NR_156697.1:n.548-4378_548-4377dup (C7orf50)
XM_011515440.3:c.174+53_174+54dup (CYP2W1) XP_011513742.1:n.174+53_174+54dup
XM_011515441.3:c.174+53_174+54dup (CYP2W1) XP_011513743.1:n.174+53_174+54dup
XM_011515581.3:c.565-4378_565-4377dup (C7orf50) XP_011513883.1:n.565-4378_565-4377dup
XM_011515582.3:c.565-4378_565-4377dup (C7orf50) XP_011513884.1:n.565-4378_565-4377dup
XM_011515583.2:c.565-4378_565-4377dup (C7orf50) XP_011513885.1:n.565-4378_565-4377dup
XM_011515584.2:c.565-4378_565-4377dup (C7orf50) XP_011513886.1:n.565-4378_565-4377dup
XM_017012720.2:c.565-4378_565-4377dup (C7orf50) XP_016868209.1:n.565-4378_565-4377dup
XM_017012721.2:c.523-4378_523-4377dup (C7orf50) XP_016868210.1:n.523-4378_523-4377dup
NM_017781.3:c.174+53_174+54dup (CYP2W1) MANE Select NP_060251.2:n.174+53_174+54dup
NR_156697.2:n.548-4378_548-4377dup (C7orf50)