Canonical Allele Identifier: CA533655360

Gene: MCEE

Linked Data

• dbSNP Id: rs1301847118
• gnomAD v2: 2-71351608-C-CACAGCACCATATATATATCTTCAACTTGTTT
• MyVariant Identifiers: chr2:g.71351608_71351609insACAGCACCATATATATATCTTCAACTTGTTT (hg19) ; chr2:g.71124478_71124479insACAGCACCATATATATATCTTCAACTTGTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124478_71124479insACAGCACCATATATATATCTTCAACTTGTTT , CM000664.2:g.71124478_71124479insACAGCACCATATATATATCTTCAACTTGTTT	GRCh38
NC_000002.11:g.71351608_71351609insACAGCACCATATATATATCTTCAACTTGTTT , CM000664.1:g.71351608_71351609insACAGCACCATATATATATCTTCAACTTGTTT	GRCh37
NC_000002.10:g.71205116_71205117insACAGCACCATATATATATCTTCAACTTGTTT	NCBI36
NG_008977.1:g.10786_10787insAAACAAGTTGAAGATATATATATGGTGCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.105_106insAAACAAGTTGAAGATATATATATGGTGCTGT MANE Select	ENSP00000244217.5:p.Asp36LysfsTer11
ENST00000244217.5:c.105_106insAAACAAGTTGAAGATATATATATGGTGCTGT	ENSP00000244217.5:p.Asp36LysfsTer11
ENST00000486135.1:c.-181_-180insAAACAAGTTGAAGATATATATATGGTGCTGT	ENSP00000441569.1:n.-181_-180insAAACAAGTTGAAGATATATATATGGTGCT...
ENST00000494660.6:c.-181_-180insAAACAAGTTGAAGATATATATATGGTGCTGT	ENSP00000437361.1:n.-181_-180insAAACAAGTTGAAGATATATATATGGTGCT...
NM_032601.3:c.105_106insAAACAAGTTGAAGATATATATATGGTGCTGT	NP_115990.3:p.Asp36LysfsTer11
XM_005264613.2:c.105_106insAAACAAGTTGAAGATATATATATGGTGCTGT	XP_005264670.1:p.Asp36LysfsTer11
XR_939729.1:n.174_175insAAACAAGTTGAAGATATATATATGGTGCTGT
XR_939729.2:n.174_175insAAACAAGTTGAAGATATATATATGGTGCTGT
NM_032601.4:c.105_106insAAACAAGTTGAAGATATATATATGGTGCTGT MANE Select	NP_115990.3:p.Asp36LysfsTer11