Canonical Allele Identifier: CA2683766905

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401683-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401686_94401687del , CM000669.2:g.94401686_94401687del	GRCh38
NC_000007.13:g.94030998_94030999del , CM000669.1:g.94030998_94030999del	GRCh37
NC_000007.12:g.93868934_93868935del	NCBI36
NG_007405.1:g.12126_12127del , LRG_2:g.12126_12127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+66_279+67del MANE Select	ENSP00000297268.6:n.279+66_279+67del
ENST00000297268.10:c.279+66_279+67del	ENSP00000297268.6:n.279+66_279+67del
ENST00000620463.1:c.273+66_273+67del	ENSP00000477719.1:n.273+66_273+67del
NM_000089.3:c.279+66_279+67del , LRG_2t1:c.279+66_279+67del	NP_000080.2:n.279+66_279+67del
NM_000089.4:c.279+66_279+67del MANE Select	NP_000080.2:n.279+66_279+67del