Canonical Allele Identifier: CA4346640

Gene: COL1A2

Linked Data

• ExAC: 7:94034081 G / GTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGT
• MyVariant Identifiers: chr7:g.94034081_94034082insTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404770_94404771insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT , CM000669.2:g.94404770_94404771insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT	GRCh38
NC_000007.13:g.94034082_94034083insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT , CM000669.1:g.94034082_94034083insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT	GRCh37
NC_000007.12:g.93872018_93872019insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT	NCBI36
NG_007405.1:g.15210_15211insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT , LRG_2:g.15210_15211insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT MANE Select	ENSP00000297268.6:n.378+24_378+25insCAATA...
ENST00000297268.10:c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT	ENSP00000297268.6:n.378+24_378+25insCAATA...
ENST00000620463.1:c.372+24_372+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT	ENSP00000477719.1:n.372+24_372+25insCAATA...
NM_000089.3:c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT , LRG_2t1:c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT	NP_000080.2:n.378+24_378+25insCAATATGCCCA...
NM_000089.4:c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT MANE Select	NP_000080.2:n.378+24_378+25insCAATATGCCCA...