Canonical Allele Identifier: CA500992600
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48267469_48267686del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190109_50190326del , CM000679.2:g.50190109_50190326del GRCh38
NC_000017.10:g.48267470_48267687del , CM000679.1:g.48267470_48267687del GRCh37
NC_000017.9:g.45622469_45622686del NCBI36
NG_007400.1:g.16315_16532del , LRG_1:g.16315_16532del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2451+2_2452del
ENST00000225964.9:c.2451+2_2452del
NM_000088.3:c.2451+2_2452del , LRG_1t1:c.2451+2_2452del
XM_005257058.3:c.2451+2_2452del
XM_005257059.3:c.1533+2_1534del
XM_011524341.1:c.2253+2_2254del
XM_005257058.4:c.2451+2_2452del
XM_005257059.4:c.1533+2_1534del
NM_000088.4:c.2451+2_2452del
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