Canonical Allele Identifier: CA984452093

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50185415-G-GTTTTTT
• gnomAD v4: 17-50185415-G-GTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185415_50185416insTTTTTT , CM000679.2:g.50185415_50185416insTTTTTT	GRCh38
NC_000017.10:g.48262776_48262777insTTTTTT , CM000679.1:g.48262776_48262777insTTTTTT	GRCh37
NC_000017.9:g.45617775_45617776insTTTTTT	NCBI36
NG_007400.1:g.21224_21225insAAAAAA , LRG_1:g.21224_21225insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*86_*87insAAAAAA MANE Select	ENSP00000225964.6:n.*86_*87insAAAAAA
ENST00000225964.9:c.*86_*87insAAAAAA	ENSP00000225964.5:n.*86_*87insAAAAAA
NM_000088.3:c.*86_*87insAAAAAA , LRG_1t1:c.*86_*87insAAAAAA	NP_000079.2:n.*86_*87insAAAAAA
XM_005257058.3:c.*86_*87insAAAAAA	XP_005257115.2:n.*86_*87insAAAAAA
XM_005257059.3:c.*86_*87insAAAAAA	XP_005257116.2:n.*86_*87insAAAAAA
XM_011524341.1:c.*86_*87insAAAAAA	XP_011522643.1:n.*86_*87insAAAAAA
XM_005257058.4:c.*86_*87insAAAAAA	XP_005257115.2:n.*86_*87insAAAAAA
XM_005257059.4:c.*86_*87insAAAAAA	XP_005257116.2:n.*86_*87insAAAAAA
NM_000088.4:c.*86_*87insAAAAAA MANE Select	NP_000079.2:n.*86_*87insAAAAAA