Canonical Allele Identifier: CA2595039488

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50185359-GAAA-G
• gnomAD v4: 17-50185359-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185364_50185366del , CM000679.2:g.50185364_50185366del	GRCh38
NC_000017.10:g.48262725_48262727del , CM000679.1:g.48262725_48262727del	GRCh37
NC_000017.9:g.45617724_45617726del	NCBI36
NG_007400.1:g.21278_21280del , LRG_1:g.21278_21280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*140_*142del MANE Select	ENSP00000225964.6:n.*140_*142del
ENST00000225964.9:c.*140_*142del	ENSP00000225964.5:n.*140_*142del
NM_000088.3:c.*140_*142del , LRG_1t1:c.*140_*142del	NP_000079.2:n.*140_*142del
XM_005257058.3:c.*140_*142del	XP_005257115.2:n.*140_*142del
XM_005257059.3:c.*140_*142del	XP_005257116.2:n.*140_*142del
XM_011524341.1:c.*140_*142del	XP_011522643.1:n.*140_*142del
XM_005257058.4:c.*140_*142del	XP_005257115.2:n.*140_*142del
XM_005257059.4:c.*140_*142del	XP_005257116.2:n.*140_*142del
NM_000088.4:c.*140_*142del MANE Select	NP_000079.2:n.*140_*142del