Canonical Allele Identifier: CA2638680103

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198596-C-CACCAGGAAGTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198596_50198597insACCAGGAAGTGCA , CM000679.2:g.50198596_50198597insACCAGGAAGTGCA	GRCh38
NC_000017.10:g.48275957_48275958insACCAGGAAGTGCA , CM000679.1:g.48275957_48275958insACCAGGAAGTGCA	GRCh37
NC_000017.9:g.45630956_45630957insACCAGGAAGTGCA	NCBI36
NG_007400.1:g.8043_8044insTGCACTTCCTGGT , LRG_1:g.8043_8044insTGCACTTCCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-93_472-92insTGCACTTCCTGGT MANE Select	ENSP00000225964.6:n.472-93_472-92insTGCACTTCCTGGT
ENST00000225964.9:c.472-93_472-92insTGCACTTCCTGGT	ENSP00000225964.5:n.472-93_472-92insTGCACTTCCTGGT
ENST00000495677.1:n.106_107insTGCACTTCCTGGT
NM_000088.3:c.472-93_472-92insTGCACTTCCTGGT , LRG_1t1:c.472-93_472-92insTGCACTTCCTGGT	NP_000079.2:n.472-93_472-92insTGCACTTCCTGGT
XM_005257058.3:c.472-93_472-92insTGCACTTCCTGGT	XP_005257115.2:n.472-93_472-92insTGCACTTCCTGGT
XM_005257059.3:c.472-93_472-92insTGCACTTCCTGGT	XP_005257116.2:n.472-93_472-92insTGCACTTCCTGGT
XM_011524341.1:c.472-93_472-92insTGCACTTCCTGGT	XP_011522643.1:n.472-93_472-92insTGCACTTCCTGGT
XM_005257058.4:c.472-93_472-92insTGCACTTCCTGGT	XP_005257115.2:n.472-93_472-92insTGCACTTCCTGGT
XM_005257059.4:c.472-93_472-92insTGCACTTCCTGGT	XP_005257116.2:n.472-93_472-92insTGCACTTCCTGGT
NM_000088.4:c.472-93_472-92insTGCACTTCCTGGT MANE Select	NP_000079.2:n.472-93_472-92insTGCACTTCCTGGT