Canonical Allele Identifier: CA744013262

Gene: ADAM33

Linked Data

• dbSNP Id: rs1287148966
• gnomAD v3: 20-3671093-G-GC
• gnomAD v4: 20-3671093-G-GC
• MyVariant Identifiers: chr20:g.3651740_3651741insC (hg19) ; chr20:g.3671093_3671094insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671097dup , CM000682.2:g.3671097dup	GRCh38
NC_000020.10:g.3651744dup , CM000682.1:g.3651744dup	GRCh37
NC_000020.9:g.3599744dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2152dup MANE Select	ENSP00000348912.3:p.Ala718GlyfsTer?
ENST00000350009.6:c.2074dup	ENSP00000322550.5:p.Ala692GlyfsTer?
ENST00000356518.6:c.2152dup	ENSP00000348912.2:p.Ala718GlyfsTer?
ENST00000379861.8:c.2152dup	ENSP00000369190.4:p.Ala718GlyfsTer?
ENST00000466620.5:n.1713dup
ENST00000617732.1:c.*839dup	ENSP00000483343.1:n.*839dup
ENST00000619289.4:c.1792dup	ENSP00000484600.1:p.Ala598GlyfsTer?
NM_001282447.1:c.2152dup	NP_001269376.1:p.Ala718GlyfsTer?
NM_025220.3:c.2152dup	NP_079496.1:p.Ala718GlyfsTer?
NM_153202.2:c.2074dup	NP_694882.1:p.Ala692GlyfsTer?
XM_005260843.1:c.2191dup	XP_005260900.1:p.Ala731GlyfsTer?
XM_006723639.1:c.2191dup	XP_006723702.1:p.Ala731GlyfsTer?
XM_006723640.1:c.2182dup	XP_006723703.1:p.Ala728GlyfsTer?
XM_011529366.1:c.2188dup	XP_011527668.1:p.Ala730GlyfsTer?
XM_011529367.1:c.2149dup	XP_011527669.1:p.Ala717GlyfsTer?
XM_011529368.1:c.2113dup	XP_011527670.1:p.Ala705GlyfsTer?
XM_011529373.1:c.1189dup	XP_011527675.1:p.Ala397GlyfsTer?
XR_937151.1:n.2295dup
XR_937152.1:n.2295dup
XR_937153.1:n.2176dup
XR_937154.1:n.2176dup
XR_937155.1:n.2097dup
XR_937157.1:n.2099dup
NM_001282447.2:c.2152dup	NP_001269376.1:p.Ala718GlyfsTer?
NM_025220.4:c.2152dup	NP_079496.1:p.Ala718GlyfsTer?
NM_153202.3:c.2074dup	NP_694882.1:p.Ala692GlyfsTer?
XM_011529373.2:c.1189dup	XP_011527675.1:p.Ala397GlyfsTer?
XR_001754405.1:n.2263dup
XR_002958534.1:n.2372dup
NM_001282447.3:c.2152dup	NP_001269376.1:p.Ala718GlyfsTer?
NM_025220.5:c.2152dup MANE Select	NP_079496.1:p.Ala718GlyfsTer?
NM_153202.4:c.2074dup	NP_694882.1:p.Ala692GlyfsTer?