Canonical Allele Identifier: CA291543341
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48267628_48267744del (hg19) chr17:g.50190267_50190383del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190268_50190384del , CM000679.2:g.50190268_50190384del GRCh38
NC_000017.10:g.48267629_48267745del , CM000679.1:g.48267629_48267745del GRCh37
NC_000017.9:g.45622628_45622744del NCBI36
NG_007400.1:g.16257_16373del , LRG_1:g.16257_16373del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2398-3_2451+60del
ENST00000225964.9:c.2398-3_2451+60del
NM_000088.3:c.2398-3_2451+60del , LRG_1t1:c.2398-3_2451+60del
XM_005257058.3:c.2398-3_2451+60del
XM_005257059.3:c.1480-3_1533+60del
XM_011524341.1:c.2200-3_2253+60del
XM_005257058.4:c.2398-3_2451+60del
XM_005257059.4:c.1480-3_1533+60del
NM_000088.4:c.2398-3_2451+60del
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