Canonical Allele Identifier: CA2573134202
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441523
ClinVar RCV Id: RCV001950659
dbSNP Id: rs2153503895
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007534_189007535del , CM000664.2:g.189007534_189007535del GRCh38
NC_000002.11:g.189872260_189872261del , CM000664.1:g.189872260_189872261del GRCh37
NC_000002.10:g.189580505_189580506del NCBI36
NG_007404.1:g.38162_38163del , LRG_3:g.38162_38163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3191_3192del ENSP00000415346.2:p.Thr1064ArgfsTer2
ENST00000304636.9:c.3290_3291del MANE Select ENSP00000304408.4:p.Thr1097ArgfsTer2
ENST00000304636.7:c.3290_3291del ENSP00000304408.3:p.Thr1097ArgfsTer2
ENST00000317840.9:c.2528-520_2528-519del ENSP00000315243.6:n.2528-520_2528-519del
NM_000090.3:c.3290_3291del , LRG_3t1:c.3290_3291del NP_000081.1:p.Thr1097ArgfsTer2
NM_000090.4:c.3290_3291del MANE Select NP_000081.2:p.Thr1097ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'