Canonical Allele Identifier: CA2638680107

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198598-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198602_50198603del , CM000679.2:g.50198602_50198603del	GRCh38
NC_000017.10:g.48275963_48275964del , CM000679.1:g.48275963_48275964del	GRCh37
NC_000017.9:g.45630962_45630963del	NCBI36
NG_007400.1:g.8040_8041del , LRG_1:g.8040_8041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-96_472-95del MANE Select	ENSP00000225964.6:n.472-96_472-95del
ENST00000225964.9:c.472-96_472-95del	ENSP00000225964.5:n.472-96_472-95del
ENST00000495677.1:n.103_104del
NM_000088.3:c.472-96_472-95del , LRG_1t1:c.472-96_472-95del	NP_000079.2:n.472-96_472-95del
XM_005257058.3:c.472-96_472-95del	XP_005257115.2:n.472-96_472-95del
XM_005257059.3:c.472-96_472-95del	XP_005257116.2:n.472-96_472-95del
XM_011524341.1:c.472-96_472-95del	XP_011522643.1:n.472-96_472-95del
XM_005257058.4:c.472-96_472-95del	XP_005257115.2:n.472-96_472-95del
XM_005257059.4:c.472-96_472-95del	XP_005257116.2:n.472-96_472-95del
NM_000088.4:c.472-96_472-95del MANE Select	NP_000079.2:n.472-96_472-95del