Canonical Allele Identifier: CA2638680846

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198801-C-CCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198801_50198802insCCCCCCCCCCCCCCCT , CM000679.2:g.50198801_50198802insCCCCCCCCCCCCCCCT	GRCh38
NC_000017.10:g.48276162_48276163insCCCCCCCCCCCCCCCT , CM000679.1:g.48276162_48276163insCCCCCCCCCCCCCCCT	GRCh37
NC_000017.9:g.45631161_45631162insCCCCCCCCCCCCCCCT	NCBI36
NG_007400.1:g.7838_7839insAGGGGGGGGGGGGGGG , LRG_1:g.7838_7839insAGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-298_472-297insAGGGGGGGGGGGGGGG MANE Select	ENSP00000225964.6:n.472-298_472-297insAGGGGGGGGGGGGGGG
ENST00000225964.9:c.472-298_472-297insAGGGGGGGGGGGGGGG	ENSP00000225964.5:n.472-298_472-297insAGGGGGGGGGGGGGGG
NM_000088.3:c.472-298_472-297insAGGGGGGGGGGGGGGG , LRG_1t1:c.472-298_472-297insAGGGGGGGGGGGGGGG	NP_000079.2:n.472-298_472-297insAGGGGGGGGGGGGGGG
XM_005257058.3:c.472-298_472-297insAGGGGGGGGGGGGGGG	XP_005257115.2:n.472-298_472-297insAGGGGGGGGGGGGGGG
XM_005257059.3:c.472-298_472-297insAGGGGGGGGGGGGGGG	XP_005257116.2:n.472-298_472-297insAGGGGGGGGGGGGGGG
XM_011524341.1:c.472-298_472-297insAGGGGGGGGGGGGGGG	XP_011522643.1:n.472-298_472-297insAGGGGGGGGGGGGGGG
XM_005257058.4:c.472-298_472-297insAGGGGGGGGGGGGGGG	XP_005257115.2:n.472-298_472-297insAGGGGGGGGGGGGGGG
XM_005257059.4:c.472-298_472-297insAGGGGGGGGGGGGGGG	XP_005257116.2:n.472-298_472-297insAGGGGGGGGGGGGGGG
NM_000088.4:c.472-298_472-297insAGGGGGGGGGGGGGGG MANE Select	NP_000079.2:n.472-298_472-297insAGGGGGGGGGGGGGGG