Canonical Allele Identifier: CA984450069

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906347667
• gnomAD v4: 17-50184976-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50184981del , CM000679.2:g.50184981del	GRCh38
NC_000017.10:g.48262342del , CM000679.1:g.48262342del	GRCh37
NC_000017.9:g.45617341del	NCBI36
NG_007400.1:g.21663del , LRG_1:g.21663del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.*525del MANE Select	ENSP00000225964.6:n.*525del
ENST00000225964.9:c.*525del	ENSP00000225964.5:n.*525del
NM_000088.3:c.*525del , LRG_1t1:c.*525del	NP_000079.2:n.*525del
XM_005257058.3:c.*525del	XP_005257115.2:n.*525del
XM_005257059.3:c.*525del	XP_005257116.2:n.*525del
XM_011524341.1:c.*525del	XP_011522643.1:n.*525del
XM_005257058.4:c.*525del	XP_005257115.2:n.*525del
XM_005257059.4:c.*525del	XP_005257116.2:n.*525del
NM_000088.4:c.*525del MANE Select	NP_000079.2:n.*525del