Canonical Allele Identifier: CA2638681291

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199173-AAAAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199184_50199189del , CM000679.2:g.50199184_50199189del	GRCh38
NC_000017.10:g.48276545_48276550del , CM000679.1:g.48276545_48276550del	GRCh37
NC_000017.9:g.45631544_45631549del	NCBI36
NG_007400.1:g.7461_7466del , LRG_1:g.7461_7466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+47_471+52del MANE Select	ENSP00000225964.6:n.471+47_471+52del
ENST00000225964.9:c.471+47_471+52del	ENSP00000225964.5:n.471+47_471+52del
NM_000088.3:c.471+47_471+52del , LRG_1t1:c.471+47_471+52del	NP_000079.2:n.471+47_471+52del
XM_005257058.3:c.471+47_471+52del	XP_005257115.2:n.471+47_471+52del
XM_005257059.3:c.471+47_471+52del	XP_005257116.2:n.471+47_471+52del
XM_011524341.1:c.471+47_471+52del	XP_011522643.1:n.471+47_471+52del
XM_005257058.4:c.471+47_471+52del	XP_005257115.2:n.471+47_471+52del
XM_005257059.4:c.471+47_471+52del	XP_005257116.2:n.471+47_471+52del
NM_000088.4:c.471+47_471+52del MANE Select	NP_000079.2:n.471+47_471+52del