Canonical Allele Identifier: CA2638680859

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198804-AATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198808_50198811del , CM000679.2:g.50198808_50198811del	GRCh38
NC_000017.10:g.48276169_48276172del , CM000679.1:g.48276169_48276172del	GRCh37
NC_000017.9:g.45631168_45631171del	NCBI36
NG_007400.1:g.7832_7835del , LRG_1:g.7832_7835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-304_472-301del MANE Select	ENSP00000225964.6:n.472-304_472-301del
ENST00000225964.9:c.472-304_472-301del	ENSP00000225964.5:n.472-304_472-301del
NM_000088.3:c.472-304_472-301del , LRG_1t1:c.472-304_472-301del	NP_000079.2:n.472-304_472-301del
XM_005257058.3:c.472-304_472-301del	XP_005257115.2:n.472-304_472-301del
XM_005257059.3:c.472-304_472-301del	XP_005257116.2:n.472-304_472-301del
XM_011524341.1:c.472-304_472-301del	XP_011522643.1:n.472-304_472-301del
XM_005257058.4:c.472-304_472-301del	XP_005257115.2:n.472-304_472-301del
XM_005257059.4:c.472-304_472-301del	XP_005257116.2:n.472-304_472-301del
NM_000088.4:c.472-304_472-301del MANE Select	NP_000079.2:n.472-304_472-301del