Canonical Allele Identifier: CA1315396270

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989592_188989599delinsAATTTTTG , CM000664.2:g.188989592_188989599delinsAATTTTTG	GRCh38
NC_000002.11:g.189854318_189854325delinsAATTTTTG , CM000664.1:g.189854318_189854325delinsAATTTTTG	GRCh37
NC_000002.10:g.189562563_189562570delinsAATTTTTG	NCBI36
NG_007404.1:g.20220_20227delinsAATTTTTG , LRG_3:g.20220_20227delinsAATTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+143_690+150delinsAATTTTTG	ENSP00000415346.2:n.690+143_690+150delinsAATTTTTG
ENST00000304636.9:c.690+143_690+150delinsAATTTTTG MANE Select	ENSP00000304408.4:n.690+143_690+150delinsAATTTTTG
ENST00000304636.7:c.690+143_690+150delinsAATTTTTG	ENSP00000304408.3:n.690+143_690+150delinsAATTTTTG
ENST00000317840.9:c.690+143_690+150delinsAATTTTTG	ENSP00000315243.6:n.690+143_690+150delinsAATTTTTG
NM_000090.3:c.690+143_690+150delinsAATTTTTG , LRG_3t1:c.690+143_690+150delinsAATTTTTG	NP_000081.1:n.690+143_690+150delinsAATTTTTG
NM_000090.4:c.690+143_690+150delinsAATTTTTG MANE Select	NP_000081.2:n.690+143_690+150delinsAATTTTTG