Canonical Allele Identifier: CA9745249

Gene: ADAM33

Linked Data

• dbSNP Id: rs762768478
• ExAC: 20:3652356 CTGG / C
• gnomAD v2: 20-3652356-CTGG-C
• gnomAD v3: 20-3671709-CTGG-C
• gnomAD v4: 20-3671709-CTGG-C
• MyVariant Identifiers: chr20:g.3652357_3652359del (hg19) ; chr20:g.3671710_3671712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671710_3671712del , CM000682.2:g.3671710_3671712del	GRCh38
NC_000020.10:g.3652357_3652359del , CM000682.1:g.3652357_3652359del	GRCh37
NC_000020.9:g.3600357_3600359del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1774_1776del MANE Select	ENSP00000348912.3:p.Pro592del
ENST00000350009.6:c.1774_1776del	ENSP00000322550.5:p.Pro592del
ENST00000356518.6:c.1774_1776del	ENSP00000348912.2:p.Pro592del
ENST00000379861.8:c.1774_1776del	ENSP00000369190.4:p.Pro592del
ENST00000466620.5:n.1413_1415del
ENST00000617732.1:c.*632-255_*632-253del	ENSP00000483343.1:n.*632-255_*632-253del
ENST00000619289.4:c.1414_1416del	ENSP00000484600.1:p.Pro472del
NM_001282447.1:c.1774_1776del	NP_001269376.1:p.Pro592del
NM_025220.3:c.1774_1776del	NP_079496.1:p.Pro592del
NM_153202.2:c.1774_1776del	NP_694882.1:p.Pro592del
XM_005260843.1:c.1813_1815del	XP_005260900.1:p.Pro605del
XM_006723639.1:c.1813_1815del	XP_006723702.1:p.Pro605del
XM_006723640.1:c.1804_1806del	XP_006723703.1:p.Pro602del
XM_011529366.1:c.1810_1812del	XP_011527668.1:p.Pro604del
XM_011529367.1:c.1771_1773del	XP_011527669.1:p.Pro591del
XM_011529368.1:c.1813_1815del	XP_011527670.1:p.Pro605del
XM_011529369.1:c.1781_1783del	XP_011527671.1:p.Ala594_Ser595delinsGly
XM_011529370.1:c.1781_1783del	XP_011527672.1:p.Ala594_Ser595delinsGly
XM_011529373.1:c.811_813del	XP_011527675.1:p.Pro271del
XR_937151.1:n.1917_1919del
XR_937152.1:n.1917_1919del
XR_937153.1:n.1798_1800del
XR_937154.1:n.1798_1800del
XR_937155.1:n.1719_1721del
XR_937157.1:n.1721_1723del
NM_001282447.2:c.1774_1776del	NP_001269376.1:p.Pro592del
NM_025220.4:c.1774_1776del	NP_079496.1:p.Pro592del
NM_153202.3:c.1774_1776del	NP_694882.1:p.Pro592del
XM_011529373.2:c.811_813del	XP_011527675.1:p.Pro271del
XR_001754405.1:n.1885_1887del
XR_002958534.1:n.1994_1996del
NM_001282447.3:c.1774_1776del	NP_001269376.1:p.Pro592del
NM_025220.5:c.1774_1776del MANE Select	NP_079496.1:p.Pro592del
NM_153202.4:c.1774_1776del	NP_694882.1:p.Pro592del