Canonical Allele Identifier: CA2683766861

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401631-CTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401633_94401636del , CM000669.2:g.94401633_94401636del	GRCh38
NC_000007.13:g.94030945_94030948del , CM000669.1:g.94030945_94030948del	GRCh37
NC_000007.12:g.93868881_93868884del	NCBI36
NG_007405.1:g.12073_12076del , LRG_2:g.12073_12076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+13_279+16del MANE Select	ENSP00000297268.6:n.279+13_279+16del
ENST00000297268.10:c.279+13_279+16del	ENSP00000297268.6:n.279+13_279+16del
ENST00000620463.1:c.273+13_273+16del	ENSP00000477719.1:n.273+13_273+16del
NM_000089.3:c.279+13_279+16del , LRG_2t1:c.279+13_279+16del	NP_000080.2:n.279+13_279+16del
NM_000089.4:c.279+13_279+16del MANE Select	NP_000080.2:n.279+13_279+16del