Canonical Allele Identifier: CA2651724015

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3669599-CCGCCCAGGGGGTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669600_3669613del , CM000682.2:g.3669600_3669613del	GRCh38
NC_000020.10:g.3650247_3650260del , CM000682.1:g.3650247_3650260del	GRCh37
NC_000020.9:g.3598247_3598260del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2265_2278del MANE Select	ENSP00000348912.3:p.Asp755GlufsTer21
ENST00000350009.6:c.2187_2200del	ENSP00000322550.5:p.Asp729GlufsTer21
ENST00000356518.6:c.2265_2278del	ENSP00000348912.2:p.Asp755GlufsTer21
ENST00000379861.8:c.2265_2278del	ENSP00000369190.4:p.Asp755GlufsTer21
ENST00000466620.5:n.1826_1839del
ENST00000483362.1:n.1013_1026del
ENST00000617732.1:c.*952_*965del	ENSP00000483343.1:n.*952_*965del
ENST00000619289.4:c.1905_1918del	ENSP00000484600.1:p.Asp635GlufsTer21
NM_001282447.1:c.2265_2278del	NP_001269376.1:p.Asp755GlufsTer21
NM_025220.3:c.2265_2278del	NP_079496.1:p.Asp755GlufsTer21
NM_153202.2:c.2187_2200del	NP_694882.1:p.Asp729GlufsTer21
XM_005260843.1:c.2304_2317del	XP_005260900.1:p.Asp768GlufsTer21
XM_006723639.1:c.2304_2317del	XP_006723702.1:p.Asp768GlufsTer21
XM_006723640.1:c.2295_2308del	XP_006723703.1:p.Asp765GlufsTer21
XM_011529366.1:c.2301_2314del	XP_011527668.1:p.Asp767GlufsTer21
XM_011529367.1:c.2262_2275del	XP_011527669.1:p.Asp754GlufsTer21
XM_011529368.1:c.2226_2239del	XP_011527670.1:p.Asp742GlufsTer21
XM_011529373.1:c.1302_1315del	XP_011527675.1:p.Asp434GlufsTer21
XR_937151.1:n.2384-243_2384-230del
XR_937152.1:n.2384-243_2384-230del
XR_937153.1:n.2289_2302del
XR_937154.1:n.2289_2302del
XR_937155.1:n.2210_2223del
XR_937157.1:n.2212_2225del
NM_001282447.2:c.2265_2278del	NP_001269376.1:p.Asp755GlufsTer21
NM_025220.4:c.2265_2278del	NP_079496.1:p.Asp755GlufsTer21
NM_153202.3:c.2187_2200del	NP_694882.1:p.Asp729GlufsTer21
XM_011529373.2:c.1302_1315del	XP_011527675.1:p.Asp434GlufsTer21
XR_001754405.1:n.2376_2389del
XR_002958534.1:n.2485_2498del
NM_001282447.3:c.2265_2278del	NP_001269376.1:p.Asp755GlufsTer21
NM_025220.5:c.2265_2278del MANE Select	NP_079496.1:p.Asp755GlufsTer21
NM_153202.4:c.2187_2200del	NP_694882.1:p.Asp729GlufsTer21