Canonical Allele Identifier: CA2638704536

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185684-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185686_50185687del , CM000679.2:g.50185686_50185687del	GRCh38
NC_000017.10:g.48263047_48263048del , CM000679.1:g.48263047_48263048del	GRCh37
NC_000017.9:g.45618046_45618047del	NCBI36
NG_007400.1:g.20954_20955del , LRG_1:g.20954_20955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-38_4249-37del MANE Select	ENSP00000225964.6:n.4249-38_4249-37del
ENST00000225964.9:c.4249-38_4249-37del	ENSP00000225964.5:n.4249-38_4249-37del
NM_000088.3:c.4249-38_4249-37del , LRG_1t1:c.4249-38_4249-37del	NP_000079.2:n.4249-38_4249-37del
XM_005257058.3:c.3979-38_3979-37del	XP_005257115.2:n.3979-38_3979-37del
XM_005257059.3:c.3331-38_3331-37del	XP_005257116.2:n.3331-38_3331-37del
XM_011524341.1:c.4051-38_4051-37del	XP_011522643.1:n.4051-38_4051-37del
XM_005257058.4:c.3979-38_3979-37del	XP_005257115.2:n.3979-38_3979-37del
XM_005257059.4:c.3331-38_3331-37del	XP_005257116.2:n.3331-38_3331-37del
NM_000088.4:c.4249-38_4249-37del MANE Select	NP_000079.2:n.4249-38_4249-37del