Canonical Allele Identifier: CA2638677617

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50196877-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196882_50196883del , CM000679.2:g.50196882_50196883del	GRCh38
NC_000017.10:g.48274243_48274244del , CM000679.1:g.48274243_48274244del	GRCh37
NC_000017.9:g.45629242_45629243del	NCBI36
NG_007400.1:g.9761_9762del , LRG_1:g.9761_9762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.804+131_804+132del MANE Select	ENSP00000225964.6:n.804+131_804+132del
ENST00000225964.9:c.804+131_804+132del	ENSP00000225964.5:n.804+131_804+132del
ENST00000495677.1:n.531+131_531+132del
NM_000088.3:c.804+131_804+132del , LRG_1t1:c.804+131_804+132del	NP_000079.2:n.804+131_804+132del
XM_005257058.3:c.804+131_804+132del	XP_005257115.2:n.804+131_804+132del
XM_005257059.3:c.804+131_804+132del	XP_005257116.2:n.804+131_804+132del
XM_011524341.1:c.804+131_804+132del	XP_011522643.1:n.804+131_804+132del
XM_005257058.4:c.804+131_804+132del	XP_005257115.2:n.804+131_804+132del
XM_005257059.4:c.804+131_804+132del	XP_005257116.2:n.804+131_804+132del
NM_000088.4:c.804+131_804+132del MANE Select	NP_000079.2:n.804+131_804+132del