Canonical Allele Identifier: CA2263919593

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197075_50197078delinsTGAA , CM000679.2:g.50197075_50197078delinsTGAA	GRCh38
NC_000017.10:g.48274436_48274439delinsTGAA , CM000679.1:g.48274436_48274439delinsTGAA	GRCh37
NC_000017.9:g.45629435_45629438delinsTGAA	NCBI36
NG_007400.1:g.9562_9565delinsTTCA , LRG_1:g.9562_9565delinsTTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.751-15_751-12delinsTTCA MANE Select	ENSP00000225964.6:n.751-15_751-12delinsTT...
ENST00000225964.9:c.751-15_751-12delinsTTCA	ENSP00000225964.5:n.751-15_751-12delinsTT...
ENST00000495677.1:n.478-15_478-12delinsTTCA
NM_000088.3:c.751-15_751-12delinsTTCA , LRG_1t1:c.751-15_751-12delinsTTCA	NP_000079.2:n.751-15_751-12delinsTTCA
XM_005257058.3:c.751-15_751-12delinsTTCA	XP_005257115.2:n.751-15_751-12delinsTTCA
XM_005257059.3:c.751-15_751-12delinsTTCA	XP_005257116.2:n.751-15_751-12delinsTTCA
XM_011524341.1:c.751-15_751-12delinsTTCA	XP_011522643.1:n.751-15_751-12delinsTTCA
XM_005257058.4:c.751-15_751-12delinsTTCA	XP_005257115.2:n.751-15_751-12delinsTTCA
XM_005257059.4:c.751-15_751-12delinsTTCA	XP_005257116.2:n.751-15_751-12delinsTTCA
NM_000088.4:c.751-15_751-12delinsTTCA MANE Select	NP_000079.2:n.751-15_751-12delinsTTCA