Canonical Allele Identifier: CA984452095

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50185416-G-GTTTTTTT
• gnomAD v4: 17-50185416-G-GTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185416_50185417insTTTTTTT , CM000679.2:g.50185416_50185417insTTTTTTT	GRCh38
NC_000017.10:g.48262777_48262778insTTTTTTT , CM000679.1:g.48262777_48262778insTTTTTTT	GRCh37
NC_000017.9:g.45617776_45617777insTTTTTTT	NCBI36
NG_007400.1:g.21223_21224insAAAAAAA , LRG_1:g.21223_21224insAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*85_*86insAAAAAAA MANE Select	ENSP00000225964.6:n.*85_*86insAAAAAAA
ENST00000225964.9:c.*85_*86insAAAAAAA	ENSP00000225964.5:n.*85_*86insAAAAAAA
NM_000088.3:c.*85_*86insAAAAAAA , LRG_1t1:c.*85_*86insAAAAAAA	NP_000079.2:n.*85_*86insAAAAAAA
XM_005257058.3:c.*85_*86insAAAAAAA	XP_005257115.2:n.*85_*86insAAAAAAA
XM_005257059.3:c.*85_*86insAAAAAAA	XP_005257116.2:n.*85_*86insAAAAAAA
XM_011524341.1:c.*85_*86insAAAAAAA	XP_011522643.1:n.*85_*86insAAAAAAA
XM_005257058.4:c.*85_*86insAAAAAAA	XP_005257115.2:n.*85_*86insAAAAAAA
XM_005257059.4:c.*85_*86insAAAAAAA	XP_005257116.2:n.*85_*86insAAAAAAA
NM_000088.4:c.*85_*86insAAAAAAA MANE Select	NP_000079.2:n.*85_*86insAAAAAAA