Canonical Allele Identifier: CA2662288717

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993544-T-TAGTTTCATGCTTACTCCATGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993544_188993545insAGTTTCATGCTTACTCCATGAAA , CM000664.2:g.188993544_188993545insAGTTTCATGCTTACTCCATGAAA	GRCh38
NC_000002.11:g.189858270_189858271insAGTTTCATGCTTACTCCATGAAA , CM000664.1:g.189858270_189858271insAGTTTCATGCTTACTCCATGAAA	GRCh37
NC_000002.10:g.189566515_189566516insAGTTTCATGCTTACTCCATGAAA	NCBI36
NG_007404.1:g.24172_24173insAGTTTCATGCTTACTCCATGAAA , LRG_3:g.24172_24173insAGTTTCATGCTTACTCCATGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-494_1051-493insAGTTTCATGCTTACTCCATGAAA	ENSP00000415346.2:n.1051-494_1051-493insAGTTTCATGCTTACTCCATGA...
ENST00000304636.9:c.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA MANE Select	ENSP00000304408.4:n.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA...
ENST00000304636.7:c.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA	ENSP00000304408.3:n.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA...
ENST00000317840.9:c.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA	ENSP00000315243.6:n.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA...
ENST00000450867.1:c.149-494_149-493insAGTTTCATGCTTACTCCATGAAA
NM_000090.3:c.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA , LRG_3t1:c.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA	NP_000081.1:n.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA
NM_000090.4:c.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA MANE Select	NP_000081.2:n.1149+85_1149+86insAGTTTCATGCTTACTCCATGAAA