Canonical Allele Identifier: CA2651727877

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671904-TCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671906_3671907del , CM000682.2:g.3671906_3671907del	GRCh38
NC_000020.10:g.3652553_3652554del , CM000682.1:g.3652553_3652554del	GRCh37
NC_000020.9:g.3600553_3600554del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1677_1678del MANE Select	ENSP00000348912.3:p.Ser559ArgfsTer?
ENST00000350009.6:c.1677_1678del	ENSP00000322550.5:p.Ser559ArgfsTer?
ENST00000356518.6:c.1677_1678del	ENSP00000348912.2:p.Ser559ArgfsTer?
ENST00000379861.8:c.1677_1678del	ENSP00000369190.4:p.Ser559ArgfsTer?
ENST00000466620.5:n.1316_1317del
ENST00000617732.1:c.*632-449_*632-448del	ENSP00000483343.1:n.*632-449_*632-448del
ENST00000619289.4:c.1317_1318del	ENSP00000484600.1:p.Ser439ArgfsTer?
NM_001282447.1:c.1677_1678del	NP_001269376.1:p.Ser559ArgfsTer?
NM_025220.3:c.1677_1678del	NP_079496.1:p.Ser559ArgfsTer?
NM_153202.2:c.1677_1678del	NP_694882.1:p.Ser559ArgfsTer?
XM_005260843.1:c.1716_1717del	XP_005260900.1:p.Ser572ArgfsTer?
XM_006723639.1:c.1716_1717del	XP_006723702.1:p.Ser572ArgfsTer?
XM_006723640.1:c.1707_1708del	XP_006723703.1:p.Ser569ArgfsTer?
XM_011529366.1:c.1713_1714del	XP_011527668.1:p.Ser571ArgfsTer?
XM_011529367.1:c.1674_1675del	XP_011527669.1:p.Ser558ArgfsTer?
XM_011529368.1:c.1716_1717del	XP_011527670.1:p.Ser572ArgfsTer?
XM_011529369.1:c.1684_1685del	XP_011527671.1:p.Gly563AlafsTer?
XM_011529370.1:c.1684_1685del	XP_011527672.1:p.Gly563AlafsTer?
XM_011529373.1:c.714_715del	XP_011527675.1:p.Ser238ArgfsTer?
XR_937151.1:n.1820_1821del
XR_937152.1:n.1820_1821del
XR_937153.1:n.1701_1702del
XR_937154.1:n.1701_1702del
XR_937155.1:n.1622_1623del
XR_937157.1:n.1624_1625del
NM_001282447.2:c.1677_1678del	NP_001269376.1:p.Ser559ArgfsTer?
NM_025220.4:c.1677_1678del	NP_079496.1:p.Ser559ArgfsTer?
NM_153202.3:c.1677_1678del	NP_694882.1:p.Ser559ArgfsTer?
XM_011529373.2:c.714_715del	XP_011527675.1:p.Ser238ArgfsTer?
XR_001754405.1:n.1788_1789del
XR_002958534.1:n.1897_1898del
NM_001282447.3:c.1677_1678del	NP_001269376.1:p.Ser559ArgfsTer?
NM_025220.5:c.1677_1678del MANE Select	NP_079496.1:p.Ser559ArgfsTer?
NM_153202.4:c.1677_1678del	NP_694882.1:p.Ser559ArgfsTer?