Canonical Allele Identifier: CA626486182

Gene: COL1A1

Linked Data

• dbSNP Id: rs1200991720
• gnomAD v2: 17-48276079-ATCAAAAC-A
• gnomAD v3: 17-50198718-ATCAAAAC-A
• gnomAD v4: 17-50198718-ATCAAAAC-A
• MyVariant Identifiers: chr17:g.48276080_48276086del (hg19) ; chr17:g.50198719_50198725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198721_50198727del , CM000679.2:g.50198721_50198727del	GRCh38
NC_000017.10:g.48276082_48276088del , CM000679.1:g.48276082_48276088del	GRCh37
NC_000017.9:g.45631081_45631087del	NCBI36
NG_007400.1:g.7915_7921del , LRG_1:g.7915_7921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-221_472-215del MANE Select	ENSP00000225964.6:n.472-221_472-215del
ENST00000225964.9:c.472-221_472-215del	ENSP00000225964.5:n.472-221_472-215del
NM_000088.3:c.472-221_472-215del , LRG_1t1:c.472-221_472-215del	NP_000079.2:n.472-221_472-215del
XM_005257058.3:c.472-221_472-215del	XP_005257115.2:n.472-221_472-215del
XM_005257059.3:c.472-221_472-215del	XP_005257116.2:n.472-221_472-215del
XM_011524341.1:c.472-221_472-215del	XP_011522643.1:n.472-221_472-215del
XM_005257058.4:c.472-221_472-215del	XP_005257115.2:n.472-221_472-215del
XM_005257059.4:c.472-221_472-215del	XP_005257116.2:n.472-221_472-215del
NM_000088.4:c.472-221_472-215del MANE Select	NP_000079.2:n.472-221_472-215del