Canonical Allele Identifier: CA2753571977

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989546_188989547insCCAAACACACCCAACACA , CM000664.2:g.188989546_188989547insCCAAACACACCCAACACA	GRCh38
NC_000002.11:g.189854272_189854273insCCAAACACACCCAACACA , CM000664.1:g.189854272_189854273insCCAAACACACCCAACACA	GRCh37
NC_000002.10:g.189562517_189562518insCCAAACACACCCAACACA	NCBI36
NG_007404.1:g.20174_20175insCCAAACACACCCAACACA , LRG_3:g.20174_20175insCCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+97_690+98insCCAAACACACCCAACACA	ENSP00000415346.2:n.690+97_690+98insCCAAACACACCCAACACA
ENST00000304636.9:c.690+97_690+98insCCAAACACACCCAACACA MANE Select	ENSP00000304408.4:n.690+97_690+98insCCAAACACACCCAACACA
ENST00000304636.7:c.690+97_690+98insCCAAACACACCCAACACA	ENSP00000304408.3:n.690+97_690+98insCCAAACACACCCAACACA
ENST00000317840.9:c.690+97_690+98insCCAAACACACCCAACACA	ENSP00000315243.6:n.690+97_690+98insCCAAACACACCCAACACA
NM_000090.3:c.690+97_690+98insCCAAACACACCCAACACA , LRG_3t1:c.690+97_690+98insCCAAACACACCCAACACA	NP_000081.1:n.690+97_690+98insCCAAACACACCCAACACA
NM_000090.4:c.690+97_690+98insCCAAACACACCCAACACA MANE Select	NP_000081.2:n.690+97_690+98insCCAAACACACCCAACACA