Canonical Allele Identifier: CA1315398261

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993867_188993870delinsAATG , CM000664.2:g.188993867_188993870delinsAATG	GRCh38
NC_000002.11:g.189858593_189858596delinsAATG , CM000664.1:g.189858593_189858596delinsAATG	GRCh37
NC_000002.10:g.189566838_189566841delinsAATG	NCBI36
NG_007404.1:g.24495_24498delinsAATG , LRG_3:g.24495_24498delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-171_1051-168delinsAATG	ENSP00000415346.2:n.1051-171_1051-168delinsAATG
ENST00000304636.9:c.1150-171_1150-168delinsAATG MANE Select	ENSP00000304408.4:n.1150-171_1150-168delinsAATG
ENST00000304636.7:c.1150-171_1150-168delinsAATG	ENSP00000304408.3:n.1150-171_1150-168delinsAATG
ENST00000317840.9:c.1150-171_1150-168delinsAATG	ENSP00000315243.6:n.1150-171_1150-168delinsAATG
ENST00000450867.1:c.149-171_149-168delinsAATG
NM_000090.3:c.1150-171_1150-168delinsAATG , LRG_3t1:c.1150-171_1150-168delinsAATG	NP_000081.1:n.1150-171_1150-168delinsAATG
NM_000090.4:c.1150-171_1150-168delinsAATG MANE Select	NP_000081.2:n.1150-171_1150-168delinsAATG