Canonical Allele Identifier: CA260308
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs193922154

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199591_50199592del , CM000679.2:g.50199591_50199592del GRCh38
NC_000017.10:g.48276952_48276953del , CM000679.1:g.48276952_48276953del GRCh37
NC_000017.9:g.45631951_45631952del NCBI36
NG_007400.1:g.7050_7051del , LRG_1:g.7050_7051del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.299_300del
ENST00000225964.9:c.299_300del
ENST00000474644.1:n.418_419del
ENST00000507689.1:c.353_354del
NM_000088.3:c.299_300del , LRG_1t1:c.299_300del
XM_005257058.3:c.299_300del
XM_005257059.3:c.299_300del
XM_011524341.1:c.299_300del
XM_005257058.4:c.299_300del
XM_005257059.4:c.299_300del
NM_000088.4:c.299_300del