Canonical Allele Identifier: CA2638680265

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198643-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198643_50198644insA , CM000679.2:g.50198643_50198644insA	GRCh38
NC_000017.10:g.48276004_48276005insA , CM000679.1:g.48276004_48276005insA	GRCh37
NC_000017.9:g.45631003_45631004insA	NCBI36
NG_007400.1:g.7996_7997insT , LRG_1:g.7996_7997insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-140_472-139insT MANE Select	ENSP00000225964.6:n.472-140_472-139insT
ENST00000225964.9:c.472-140_472-139insT	ENSP00000225964.5:n.472-140_472-139insT
ENST00000495677.1:n.59_60insT
NM_000088.3:c.472-140_472-139insT , LRG_1t1:c.472-140_472-139insT	NP_000079.2:n.472-140_472-139insT
XM_005257058.3:c.472-140_472-139insT	XP_005257115.2:n.472-140_472-139insT
XM_005257059.3:c.472-140_472-139insT	XP_005257116.2:n.472-140_472-139insT
XM_011524341.1:c.472-140_472-139insT	XP_011522643.1:n.472-140_472-139insT
XM_005257058.4:c.472-140_472-139insT	XP_005257115.2:n.472-140_472-139insT
XM_005257059.4:c.472-140_472-139insT	XP_005257116.2:n.472-140_472-139insT
NM_000088.4:c.472-140_472-139insT MANE Select	NP_000079.2:n.472-140_472-139insT