Canonical Allele Identifier: CA984452108

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50185421-TCA-T
• gnomAD v4: 17-50185421-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185422_50185423del , CM000679.2:g.50185422_50185423del	GRCh38
NC_000017.10:g.48262783_48262784del , CM000679.1:g.48262783_48262784del	GRCh37
NC_000017.9:g.45617782_45617783del	NCBI36
NG_007400.1:g.21217_21218del , LRG_1:g.21217_21218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*79_*80del MANE Select	ENSP00000225964.6:n.*79_*80del
ENST00000225964.9:c.*79_*80del	ENSP00000225964.5:n.*79_*80del
NM_000088.3:c.*79_*80del , LRG_1t1:c.*79_*80del	NP_000079.2:n.*79_*80del
XM_005257058.3:c.*79_*80del	XP_005257115.2:n.*79_*80del
XM_005257059.3:c.*79_*80del	XP_005257116.2:n.*79_*80del
XM_011524341.1:c.*79_*80del	XP_011522643.1:n.*79_*80del
XM_005257058.4:c.*79_*80del	XP_005257115.2:n.*79_*80del
XM_005257059.4:c.*79_*80del	XP_005257116.2:n.*79_*80del
NM_000088.4:c.*79_*80del MANE Select	NP_000079.2:n.*79_*80del