Canonical Allele Identifier: CA626485703

Gene: COL1A1

Linked Data

• gnomAD v2: 17-48262766-TGGC-T
• gnomAD v3: 17-50185405-TGGC-T
• gnomAD v4: 17-50185405-TGGC-T
• MyVariant Identifiers: chr17:g.48262767_48262769del (hg19) ; chr17:g.50185406_50185408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185406_50185408del , CM000679.2:g.50185406_50185408del	GRCh38
NC_000017.10:g.48262767_48262769del , CM000679.1:g.48262767_48262769del	GRCh37
NC_000017.9:g.45617766_45617768del	NCBI36
NG_007400.1:g.21232_21234del , LRG_1:g.21232_21234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*94_*96del MANE Select	ENSP00000225964.6:n.*94_*96del
ENST00000225964.9:c.*94_*96del	ENSP00000225964.5:n.*94_*96del
NM_000088.3:c.*94_*96del , LRG_1t1:c.*94_*96del	NP_000079.2:n.*94_*96del
XM_005257058.3:c.*94_*96del	XP_005257115.2:n.*94_*96del
XM_005257059.3:c.*94_*96del	XP_005257116.2:n.*94_*96del
XM_011524341.1:c.*94_*96del	XP_011522643.1:n.*94_*96del
XM_005257058.4:c.*94_*96del	XP_005257115.2:n.*94_*96del
XM_005257059.4:c.*94_*96del	XP_005257116.2:n.*94_*96del
NM_000088.4:c.*94_*96del MANE Select	NP_000079.2:n.*94_*96del