Canonical Allele Identifier: CA073815

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 675457
• ClinVar RCV Id: RCV000834814
• dbSNP Id: rs531947962
• ExAC: 2:189858210 TAAGCATAGTTTCATGCTTACTCCATGA / T
• gnomAD v2: 2-189858210-TAAGCATAGTTTCATGCTTACTCCATGA-T
• gnomAD v3: 2-188993484-TAAGCATAGTTTCATGCTTACTCCATGA-T
• gnomAD v4: 2-188993484-TAAGCATAGTTTCATGCTTACTCCATGA-T
• MyVariant Identifiers: chr2:g.189858211_189858237del (hg19) ; chr2:g.188993485_188993511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993518_188993544del , CM000664.2:g.188993518_188993544del	GRCh38
NC_000002.11:g.189858244_189858270del , CM000664.1:g.189858244_189858270del	GRCh37
NC_000002.10:g.189566489_189566515del	NCBI36
NG_007404.1:g.24146_24172del , LRG_3:g.24146_24172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-520_1051-494del	ENSP00000415346.2:n.1051-520_1051-494del
ENST00000304636.9:c.1149+59_1149+85del MANE Select	ENSP00000304408.4:n.1149+59_1149+85del
ENST00000304636.7:c.1149+59_1149+85del	ENSP00000304408.3:n.1149+59_1149+85del
ENST00000317840.9:c.1149+59_1149+85del	ENSP00000315243.6:n.1149+59_1149+85del
ENST00000450867.1:c.149-520_149-494del
NM_000090.3:c.1149+59_1149+85del , LRG_3t1:c.1149+59_1149+85del	NP_000081.1:n.1149+59_1149+85del
NM_000090.4:c.1149+59_1149+85del MANE Select	NP_000081.2:n.1149+59_1149+85del