Canonical Allele Identifier: CA2662288684

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993513-A-ACTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993513_188993514insCTAT , CM000664.2:g.188993513_188993514insCTAT	GRCh38
NC_000002.11:g.189858239_189858240insCTAT , CM000664.1:g.189858239_189858240insCTAT	GRCh37
NC_000002.10:g.189566484_189566485insCTAT	NCBI36
NG_007404.1:g.24141_24142insCTAT , LRG_3:g.24141_24142insCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-525_1051-524insCTAT	ENSP00000415346.2:n.1051-525_1051-524insCTAT
ENST00000304636.9:c.1149+54_1149+55insCTAT MANE Select	ENSP00000304408.4:n.1149+54_1149+55insCTAT
ENST00000304636.7:c.1149+54_1149+55insCTAT	ENSP00000304408.3:n.1149+54_1149+55insCTAT
ENST00000317840.9:c.1149+54_1149+55insCTAT	ENSP00000315243.6:n.1149+54_1149+55insCTAT
ENST00000450867.1:c.149-525_149-524insCTAT
NM_000090.3:c.1149+54_1149+55insCTAT , LRG_3t1:c.1149+54_1149+55insCTAT	NP_000081.1:n.1149+54_1149+55insCTAT
NM_000090.4:c.1149+54_1149+55insCTAT MANE Select	NP_000081.2:n.1149+54_1149+55insCTAT