Canonical Allele Identifier: CA2263915167

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906752830
• gnomAD v4: 17-50188498-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188499del , CM000679.2:g.50188499del	GRCh38
NC_000017.10:g.48265860del , CM000679.1:g.48265860del	GRCh37
NC_000017.9:g.45620859del	NCBI36
NG_007400.1:g.18141del , LRG_1:g.18141del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+31del MANE Select	ENSP00000225964.6:n.3207+31del
ENST00000225964.9:c.3207+31del	ENSP00000225964.5:n.3207+31del
ENST00000486572.1:n.56del
ENST00000511732.1:n.182del
NM_000088.3:c.3207+31del , LRG_1t1:c.3207+31del	NP_000079.2:n.3207+31del
XM_005257058.3:c.2937+31del	XP_005257115.2:n.2937+31del
XM_005257059.3:c.2289+31del	XP_005257116.2:n.2289+31del
XM_011524341.1:c.3009+31del	XP_011522643.1:n.3009+31del
XM_005257058.4:c.2937+31del	XP_005257115.2:n.2937+31del
XM_005257059.4:c.2289+31del	XP_005257116.2:n.2289+31del
NM_000088.4:c.3207+31del MANE Select	NP_000079.2:n.3207+31del