Canonical Allele Identifier: CA500851682

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48274596_48274597insCCATTCTTTCCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197235_50197236insCCATTCTTTCCA , CM000679.2:g.50197235_50197236insCCATTCTTTCCA	GRCh38
NC_000017.10:g.48274596_48274597insCCATTCTTTCCA , CM000679.1:g.48274596_48274597insCCATTCTTTCCA	GRCh37
NC_000017.9:g.45629595_45629596insCCATTCTTTCCA	NCBI36
NG_007400.1:g.9404_9405insTGGAAAGAATGG , LRG_1:g.9404_9405insTGGAAAGAATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.697-3_697-2insTGGAAAGAATGG MANE Select	ENSP00000225964.6:n.697-3_697-2insTGGAAAGAATGG
ENST00000225964.9:c.697-3_697-2insTGGAAAGAATGG	ENSP00000225964.5:n.697-3_697-2insTGGAAAGAATGG
ENST00000495677.1:n.424-3_424-2insTGGAAAGAATGG
NM_000088.3:c.697-3_697-2insTGGAAAGAATGG , LRG_1t1:c.697-3_697-2insTGGAAAGAATGG	NP_000079.2:n.697-3_697-2insTGGAAAGAATGG
XM_005257058.3:c.697-3_697-2insTGGAAAGAATGG	XP_005257115.2:n.697-3_697-2insTGGAAAGAATGG
XM_005257059.3:c.697-3_697-2insTGGAAAGAATGG	XP_005257116.2:n.697-3_697-2insTGGAAAGAATGG
XM_011524341.1:c.697-3_697-2insTGGAAAGAATGG	XP_011522643.1:n.697-3_697-2insTGGAAAGAATGG
XM_005257058.4:c.697-3_697-2insTGGAAAGAATGG	XP_005257115.2:n.697-3_697-2insTGGAAAGAATGG
XM_005257059.4:c.697-3_697-2insTGGAAAGAATGG	XP_005257116.2:n.697-3_697-2insTGGAAAGAATGG
NM_000088.4:c.697-3_697-2insTGGAAAGAATGG MANE Select	NP_000079.2:n.697-3_697-2insTGGAAAGAATGG