Canonical Allele Identifier: CA16620470
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423422
ClinVar RCV Id: RCV000486138
dbSNP Id: rs1064796415
MyVariant Identifiers: chr17:g.48263352del (hg19) chr17:g.50185991del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185991del , CM000679.2:g.50185991del GRCh38
NC_000017.10:g.48263352del , CM000679.1:g.48263352del GRCh37
NC_000017.9:g.45618351del NCBI36
NG_007400.1:g.20649del , LRG_1:g.20649del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.4035del MANE Select ENSP00000225964.6:p.Ala1346ProfsTer7
ENST00000225964.9:c.4035del ENSP00000225964.5:p.Ala1346ProfsTer7
ENST00000510710.3:n.1000del
NM_000088.3:c.4035del , LRG_1t1:c.4035del NP_000079.2:p.Ala1346ProfsTer7
XM_005257058.3:c.3765del XP_005257115.2:p.Ala1256ProfsTer7
XM_005257059.3:c.3117del XP_005257116.2:p.Ala1040ProfsTer7
XM_011524341.1:c.3837del XP_011522643.1:p.Ala1280ProfsTer7
XM_005257058.4:c.3765del XP_005257115.2:p.Ala1256ProfsTer7
XM_005257059.4:c.3117del XP_005257116.2:p.Ala1040ProfsTer7
NM_000088.4:c.4035del MANE Select NP_000079.2:p.Ala1346ProfsTer7
Search 100 bp 5'
Search 100 bp 3'