Canonical Allele Identifier: CA2638680174

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198627-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198630_50198631del , CM000679.2:g.50198630_50198631del	GRCh38
NC_000017.10:g.48275991_48275992del , CM000679.1:g.48275991_48275992del	GRCh37
NC_000017.9:g.45630990_45630991del	NCBI36
NG_007400.1:g.8011_8012del , LRG_1:g.8011_8012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-125_472-124del MANE Select	ENSP00000225964.6:n.472-125_472-124del
ENST00000225964.9:c.472-125_472-124del	ENSP00000225964.5:n.472-125_472-124del
ENST00000495677.1:n.74_75del
NM_000088.3:c.472-125_472-124del , LRG_1t1:c.472-125_472-124del	NP_000079.2:n.472-125_472-124del
XM_005257058.3:c.472-125_472-124del	XP_005257115.2:n.472-125_472-124del
XM_005257059.3:c.472-125_472-124del	XP_005257116.2:n.472-125_472-124del
XM_011524341.1:c.472-125_472-124del	XP_011522643.1:n.472-125_472-124del
XM_005257058.4:c.472-125_472-124del	XP_005257115.2:n.472-125_472-124del
XM_005257059.4:c.472-125_472-124del	XP_005257116.2:n.472-125_472-124del
NM_000088.4:c.472-125_472-124del MANE Select	NP_000079.2:n.472-125_472-124del