Canonical Allele Identifier: CA2683767091

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94404641-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404645_94404646del , CM000669.2:g.94404645_94404646del	GRCh38
NC_000007.13:g.94033957_94033958del , CM000669.1:g.94033957_94033958del	GRCh37
NC_000007.12:g.93871893_93871894del	NCBI36
NG_007405.1:g.15085_15086del , LRG_2:g.15085_15086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.324+45_325-47del MANE Select	ENSP00000297268.6:n.324+45_325-47del
ENST00000297268.10:c.324+45_325-47del	ENSP00000297268.6:n.324+45_325-47del
ENST00000620463.1:c.318+45_319-47del	ENSP00000477719.1:n.318+45_319-47del
NM_000089.3:c.324+45_325-47del , LRG_2t1:c.324+45_325-47del	NP_000080.2:n.324+45_325-47del
NM_000089.4:c.324+45_325-47del MANE Select	NP_000080.2:n.324+45_325-47del