Canonical Allele Identifier: CA2651725375

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3670390-TAGGGCCCTGGTGCAGGGTGAGTCCTAGGACAGCCATGCTTAGTATTATGTGACTCCCCACTCCGCCACCACCCAGGTCACAGAGAACTGGGTTAAGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3670401_3670498del , CM000682.2:g.3670401_3670498del	GRCh38
NC_000020.10:g.3651048_3651145del , CM000682.1:g.3651048_3651145del	GRCh37
NC_000020.9:g.3599048_3599145del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2240+518_2240+615del MANE Select	ENSP00000348912.3:n.2240+518_2240+615del
ENST00000350009.6:c.2162+518_2162+615del	ENSP00000322550.5:n.2162+518_2162+615del
ENST00000356518.6:c.2240+518_2240+615del	ENSP00000348912.2:n.2240+518_2240+615del
ENST00000379861.8:c.2240+518_2240+615del	ENSP00000369190.4:n.2240+518_2240+615del
ENST00000466620.5:n.1801+518_1801+615del
ENST00000483362.1:n.138_235del
ENST00000617732.1:c.*927+518_*927+615del	ENSP00000483343.1:n.*927+518_*927+615del
ENST00000619289.4:c.1880+518_1880+615del	ENSP00000484600.1:n.1880+518_1880+615del
NM_001282447.1:c.2240+518_2240+615del	NP_001269376.1:n.2240+518_2240+615del
NM_025220.3:c.2240+518_2240+615del	NP_079496.1:n.2240+518_2240+615del
NM_153202.2:c.2162+518_2162+615del	NP_694882.1:n.2162+518_2162+615del
XM_005260843.1:c.2279+518_2279+615del	XP_005260900.1:n.2279+518_2279+615del
XM_006723639.1:c.2279+518_2279+615del	XP_006723702.1:n.2279+518_2279+615del
XM_006723640.1:c.2270+518_2270+615del	XP_006723703.1:n.2270+518_2270+615del
XM_011529366.1:c.2276+518_2276+615del	XP_011527668.1:n.2276+518_2276+615del
XM_011529367.1:c.2237+518_2237+615del	XP_011527669.1:n.2237+518_2237+615del
XM_011529368.1:c.2201+518_2201+615del	XP_011527670.1:n.2201+518_2201+615del
XM_011529373.1:c.1277+518_1277+615del	XP_011527675.1:n.1277+518_1277+615del
XR_937151.1:n.2383+518_2383+615del
XR_937152.1:n.2383+518_2383+615del
XR_937153.1:n.2264+518_2264+615del
XR_937154.1:n.2264+518_2264+615del
XR_937155.1:n.2185+518_2185+615del
XR_937157.1:n.2187+518_2187+615del
NM_001282447.2:c.2240+518_2240+615del	NP_001269376.1:n.2240+518_2240+615del
NM_025220.4:c.2240+518_2240+615del	NP_079496.1:n.2240+518_2240+615del
NM_153202.3:c.2162+518_2162+615del	NP_694882.1:n.2162+518_2162+615del
XM_011529373.2:c.1277+518_1277+615del	XP_011527675.1:n.1277+518_1277+615del
XR_001754405.1:n.2351+518_2351+615del
XR_002958534.1:n.2460+518_2460+615del
NM_001282447.3:c.2240+518_2240+615del	NP_001269376.1:n.2240+518_2240+615del
NM_025220.5:c.2240+518_2240+615del MANE Select	NP_079496.1:n.2240+518_2240+615del
NM_153202.4:c.2162+518_2162+615del	NP_694882.1:n.2162+518_2162+615del