Canonical Allele Identifier: CA2638681021

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198833-TGGGGTGGTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198841_50198850del , CM000679.2:g.50198841_50198850del	GRCh38
NC_000017.10:g.48276202_48276211del , CM000679.1:g.48276202_48276211del	GRCh37
NC_000017.9:g.45631201_45631210del	NCBI36
NG_007400.1:g.7797_7806del , LRG_1:g.7797_7806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-339_472-330del MANE Select	ENSP00000225964.6:n.472-339_472-330del
ENST00000225964.9:c.472-339_472-330del	ENSP00000225964.5:n.472-339_472-330del
NM_000088.3:c.472-339_472-330del , LRG_1t1:c.472-339_472-330del	NP_000079.2:n.472-339_472-330del
XM_005257058.3:c.472-339_472-330del	XP_005257115.2:n.472-339_472-330del
XM_005257059.3:c.472-339_472-330del	XP_005257116.2:n.472-339_472-330del
XM_011524341.1:c.472-339_472-330del	XP_011522643.1:n.472-339_472-330del
XM_005257058.4:c.472-339_472-330del	XP_005257115.2:n.472-339_472-330del
XM_005257059.4:c.472-339_472-330del	XP_005257116.2:n.472-339_472-330del
NM_000088.4:c.472-339_472-330del MANE Select	NP_000079.2:n.472-339_472-330del