Canonical Allele Identifier: CA075844
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs778353200
ExAC: 2:189870998 CAT / C
gnomAD v2: 2-189870998-CAT-C
gnomAD v3: 2-189006272-CAT-C
gnomAD v4: 2-189006272-CAT-C
MyVariant Identifiers: chr2:g.189870999_189871000del (hg19) chr2:g.189006273_189006274del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006273_189006274del , CM000664.2:g.189006273_189006274del GRCh38
NC_000002.11:g.189870999_189871000del , CM000664.1:g.189870999_189871000del GRCh37
NC_000002.10:g.189579244_189579245del NCBI36
NG_007404.1:g.36901_36902del , LRG_3:g.36901_36902del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2994+14_2994+15del ENSP00000415346.2:n.2994+14_2994+15del
ENST00000304636.9:c.3093+14_3093+15del MANE Select ENSP00000304408.4:n.3093+14_3093+15del
ENST00000304636.7:c.3093+14_3093+15del ENSP00000304408.3:n.3093+14_3093+15del
ENST00000317840.9:c.2528-1781_2528-1780del ENSP00000315243.6:n.2528-1781_2528-1780de...
NM_000090.3:c.3093+14_3093+15del , LRG_3t1:c.3093+14_3093+15del NP_000081.1:n.3093+14_3093+15del
NM_000090.4:c.3093+14_3093+15del MANE Select NP_000081.2:n.3093+14_3093+15del
Search 100 bp 5'
Search 100 bp 3'