Canonical Allele Identifier: CA1315398217

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993780_188993783delinsAGAG , CM000664.2:g.188993780_188993783delinsAGAG	GRCh38
NC_000002.11:g.189858506_189858509delinsAGAG , CM000664.1:g.189858506_189858509delinsAGAG	GRCh37
NC_000002.10:g.189566751_189566754delinsAGAG	NCBI36
NG_007404.1:g.24408_24411delinsAGAG , LRG_3:g.24408_24411delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-258_1051-255delinsAGAG	ENSP00000415346.2:n.1051-258_1051-255delinsAGAG
ENST00000304636.9:c.1150-258_1150-255delinsAGAG MANE Select	ENSP00000304408.4:n.1150-258_1150-255delinsAGAG
ENST00000304636.7:c.1150-258_1150-255delinsAGAG	ENSP00000304408.3:n.1150-258_1150-255delinsAGAG
ENST00000317840.9:c.1150-258_1150-255delinsAGAG	ENSP00000315243.6:n.1150-258_1150-255delinsAGAG
ENST00000450867.1:c.149-258_149-255delinsAGAG
NM_000090.3:c.1150-258_1150-255delinsAGAG , LRG_3t1:c.1150-258_1150-255delinsAGAG	NP_000081.1:n.1150-258_1150-255delinsAGAG
NM_000090.4:c.1150-258_1150-255delinsAGAG MANE Select	NP_000081.2:n.1150-258_1150-255delinsAGAG