Canonical Allele Identifier: CA291543070

Gene: COL1A1

Linked Data

• dbSNP Id: rs869104718
• MyVariant Identifiers: chr17:g.48265961_48265969del (hg19) ; chr17:g.50188600_50188608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188604_50188612del , CM000679.2:g.50188604_50188612del	GRCh38
NC_000017.10:g.48265965_48265973del , CM000679.1:g.48265965_48265973del	GRCh37
NC_000017.9:g.45620964_45620972del	NCBI36
NG_007400.1:g.18032_18040del , LRG_1:g.18032_18040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3129_3137del MANE Select	ENSP00000225964.6:p.Pro1044_Gly1046del
ENST00000225964.9:c.3129_3137del	ENSP00000225964.5:p.Pro1044_Gly1046del
ENST00000511732.1:n.73_81del
NM_000088.3:c.3129_3137del , LRG_1t1:c.3129_3137del	NP_000079.2:p.Pro1044_Gly1046del
XM_005257058.3:c.2859_2867del	XP_005257115.2:p.Pro954_Gly956del
XM_005257059.3:c.2211_2219del	XP_005257116.2:p.Pro738_Gly740del
XM_011524341.1:c.2931_2939del	XP_011522643.1:p.Pro978_Gly980del
XM_005257058.4:c.2859_2867del	XP_005257115.2:p.Pro954_Gly956del
XM_005257059.4:c.2211_2219del	XP_005257116.2:p.Pro738_Gly740del
NM_000088.4:c.3129_3137del MANE Select	NP_000079.2:p.Pro1044_Gly1046del