Canonical Allele Identifier: CA762194347

Gene: COL3A1

Linked Data

• dbSNP Id: rs1179206261
• gnomAD v3: 2-188993445-GCTCAAGGTC-G
• gnomAD v4: 2-188993445-GCTCAAGGTC-G
• MyVariant Identifiers: chr2:g.189858172_189858180del (hg19) ; chr2:g.188993446_188993454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993449_188993457del , CM000664.2:g.188993449_188993457del	GRCh38
NC_000002.11:g.189858175_189858183del , CM000664.1:g.189858175_189858183del	GRCh37
NC_000002.10:g.189566420_189566428del	NCBI36
NG_007404.1:g.24077_24085del , LRG_3:g.24077_24085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.1050+509_1050+517del	ENSP00000415346.2:n.1050+509_1050+517del
ENST00000304636.9:c.1139_1147del MANE Select	ENSP00000304408.4:p.Gln380_Pro382del
ENST00000304636.7:c.1139_1147del	ENSP00000304408.3:p.Gln380_Pro382del
ENST00000317840.9:c.1139_1147del	ENSP00000315243.6:p.Gln380_Pro382del
ENST00000450867.1:c.148+509_148+517del
NM_000090.3:c.1139_1147del , LRG_3t1:c.1139_1147del	NP_000081.1:p.Gln380_Pro382del
NM_000090.4:c.1139_1147del MANE Select	NP_000081.2:p.Gln380_Pro382del