Canonical Allele Identifier: CA87982217

Gene: MECOM

Linked Data

• dbSNP Id: rs770604553
• gnomAD v2: 3-169082560-TTGA-T
• gnomAD v3: 3-169364772-TTGA-T
• gnomAD v4: 3-169364772-TTGA-T
• MyVariant Identifiers: chr3:g.169082561_169082563del (hg19) ; chr3:g.169364773_169364775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169364779_169364781del , CM000665.2:g.169364779_169364781del	GRCh38
NC_000003.11:g.169082567_169082569del , CM000665.1:g.169082567_169082569del	GRCh37
NC_000003.10:g.170565261_170565263del	NCBI36
NG_028279.1:g.304001_304003del
NG_028279.2:g.304001_304003del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494292.6:c.375+16412_375+16414del	ENSP00000417899.1:n.375+16412_375+16414de...
ENST00000651503.2:c.375+16412_375+16414del MANE Select	ENSP00000498411.1:n.375+16412_375+16414de...
ENST00000485957.1:n.621+16412_621+16414del
ENST00000494292.5:c.375+16412_375+16414del	ENSP00000417899.1:n.375+16412_375+16414de...
NM_001205194.1:c.-189-220943_-189-220941del	NP_001192123.1:n.-189-220943_-189-220941d...
NM_004991.3:c.375+16412_375+16414del	NP_004982.2:n.375+16412_375+16414del
XM_005247213.2:c.375+16412_375+16414del	XP_005247270.1:n.375+16412_375+16414del
XM_005247214.2:c.375+16412_375+16414del	XP_005247271.1:n.375+16412_375+16414del
XM_005247215.2:c.375+16412_375+16414del	XP_005247272.1:n.375+16412_375+16414del
XM_005247224.2:c.375+16412_375+16414del	XP_005247281.1:n.375+16412_375+16414del
XM_005247225.2:c.375+16412_375+16414del	XP_005247282.1:n.375+16412_375+16414del
XM_005247226.2:c.375+16412_375+16414del	XP_005247283.1:n.375+16412_375+16414del
NM_001366466.1:c.375+16412_375+16414del	NP_001353395.1:n.375+16412_375+16414del
NM_001366473.1:c.375+16412_375+16414del	NP_001353402.1:n.375+16412_375+16414del
XM_005247213.3:c.375+16412_375+16414del	XP_005247270.1:n.375+16412_375+16414del
XM_005247214.3:c.375+16412_375+16414del	XP_005247271.1:n.375+16412_375+16414del
XM_005247224.3:c.375+16412_375+16414del	XP_005247281.1:n.375+16412_375+16414del
XM_005247225.4:c.375+16412_375+16414del	XP_005247282.1:n.375+16412_375+16414del
XM_017005877.1:c.375+16412_375+16414del	XP_016861366.1:n.375+16412_375+16414del
NM_001205194.2:c.-189-220943_-189-220941del	NP_001192123.1:n.-189-220943_-189-220941d...
NM_001366466.2:c.375+16412_375+16414del	NP_001353395.1:n.375+16412_375+16414del
NM_001366473.2:c.375+16412_375+16414del	NP_001353402.1:n.375+16412_375+16414del
NM_004991.4:c.375+16412_375+16414del MANE Select	NP_004982.2:n.375+16412_375+16414del