Canonical Allele Identifier: CA1315398218

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993781_188993784delinsGAGA , CM000664.2:g.188993781_188993784delinsGAGA	GRCh38
NC_000002.11:g.189858507_189858510delinsGAGA , CM000664.1:g.189858507_189858510delinsGAGA	GRCh37
NC_000002.10:g.189566752_189566755delinsGAGA	NCBI36
NG_007404.1:g.24409_24412delinsGAGA , LRG_3:g.24409_24412delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-257_1051-254delinsGAGA	ENSP00000415346.2:n.1051-257_1051-254delinsGAGA
ENST00000304636.9:c.1150-257_1150-254delinsGAGA MANE Select	ENSP00000304408.4:n.1150-257_1150-254delinsGAGA
ENST00000304636.7:c.1150-257_1150-254delinsGAGA	ENSP00000304408.3:n.1150-257_1150-254delinsGAGA
ENST00000317840.9:c.1150-257_1150-254delinsGAGA	ENSP00000315243.6:n.1150-257_1150-254delinsGAGA
ENST00000450867.1:c.149-257_149-254delinsGAGA
NM_000090.3:c.1150-257_1150-254delinsGAGA , LRG_3t1:c.1150-257_1150-254delinsGAGA	NP_000081.1:n.1150-257_1150-254delinsGAGA
NM_000090.4:c.1150-257_1150-254delinsGAGA MANE Select	NP_000081.2:n.1150-257_1150-254delinsGAGA