Canonical Allele Identifier: CA2683772178

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94423265-CACACTGAGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423266_94423276del , CM000669.2:g.94423266_94423276del	GRCh38
NC_000007.13:g.94052578_94052588del , CM000669.1:g.94052578_94052588del	GRCh37
NC_000007.12:g.93890514_93890524del	NCBI36
NG_007405.1:g.33706_33716del , LRG_2:g.33706_33716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565+148_2565+158del MANE Select	ENSP00000297268.6:n.2565+148_2565+158del
ENST00000297268.10:c.2565+148_2565+158del	ENSP00000297268.6:n.2565+148_2565+158del
ENST00000481570.5:n.796_806del
ENST00000620463.1:c.2559+148_2559+158del	ENSP00000477719.1:n.2559+148_2559+158del
NM_000089.3:c.2565+148_2565+158del , LRG_2t1:c.2565+148_2565+158del	NP_000080.2:n.2565+148_2565+158del
NM_000089.4:c.2565+148_2565+158del MANE Select	NP_000080.2:n.2565+148_2565+158del