Canonical Allele Identifier: CA1702644

Gene: MCEE

Linked Data

• dbSNP Id: rs762530336
• ExAC: 2:71351606 A / ACCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT
• MyVariant Identifiers: chr2:g.71351606_71351607insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT (hg19) ; chr2:g.71124476_71124477insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124476_71124477insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT , CM000664.2:g.71124476_71124477insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT	GRCh38
NC_000002.11:g.71351606_71351607insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT , CM000664.1:g.71351606_71351607insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT	GRCh37
NC_000002.10:g.71205114_71205115insCCAGTTAATTTCACAGCACCATATATATATCTTCAACTTGT	NCBI36
NG_008977.1:g.10788_10789insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.107_108insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG MANE Select	ENSP00000244217.5:p.Asp36GlufsTer11
ENST00000244217.5:c.107_108insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG	ENSP00000244217.5:p.Asp36GlufsTer11
ENST00000486135.1:c.-179_-178insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG	ENSP00000441569.1:n.-179_-178insACAAGTTGAAGATATATATATGGTGCTGT...
ENST00000494660.6:c.-179_-178insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG	ENSP00000437361.1:n.-179_-178insACAAGTTGAAGATATATATATGGTGCTGT...
NM_032601.3:c.107_108insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG	NP_115990.3:p.Asp36GlufsTer11
XM_005264613.2:c.107_108insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG	XP_005264670.1:p.Asp36GlufsTer11
XR_939729.1:n.176_177insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG
XR_939729.2:n.176_177insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG
NM_032601.4:c.107_108insACAAGTTGAAGATATATATATGGTGCTGTGAAATTAACTGG MANE Select	NP_115990.3:p.Asp36GlufsTer11