Canonical Allele Identifier: CA1315398192

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993709_188993711delinsAAT , CM000664.2:g.188993709_188993711delinsAAT	GRCh38
NC_000002.11:g.189858435_189858437delinsAAT , CM000664.1:g.189858435_189858437delinsAAT	GRCh37
NC_000002.10:g.189566680_189566682delinsAAT	NCBI36
NG_007404.1:g.24337_24339delinsAAT , LRG_3:g.24337_24339delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-329_1051-327delinsAAT	ENSP00000415346.2:n.1051-329_1051-327delinsAAT
ENST00000304636.9:c.1149+250_1149+252delinsAAT MANE Select	ENSP00000304408.4:n.1149+250_1149+252delinsAAT
ENST00000304636.7:c.1149+250_1149+252delinsAAT	ENSP00000304408.3:n.1149+250_1149+252delinsAAT
ENST00000317840.9:c.1149+250_1149+252delinsAAT	ENSP00000315243.6:n.1149+250_1149+252delinsAAT
ENST00000450867.1:c.149-329_149-327delinsAAT
NM_000090.3:c.1149+250_1149+252delinsAAT , LRG_3t1:c.1149+250_1149+252delinsAAT	NP_000081.1:n.1149+250_1149+252delinsAAT
NM_000090.4:c.1149+250_1149+252delinsAAT MANE Select	NP_000081.2:n.1149+250_1149+252delinsAAT