Canonical Allele Identifier: CA2638704653
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50190234-CCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190235_50190236del , CM000679.2:g.50190235_50190236del GRCh38
NC_000017.10:g.48267596_48267597del , CM000679.1:g.48267596_48267597del GRCh37
NC_000017.9:g.45622595_45622596del NCBI36
NG_007400.1:g.16404_16405del , LRG_1:g.16404_16405del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2451+91_2451+92del MANE Select ENSP00000225964.6:n.2451+91_2451+92del
ENST00000225964.9:c.2451+91_2451+92del ENSP00000225964.5:n.2451+91_2451+92del
NM_000088.3:c.2451+91_2451+92del , LRG_1t1:c.2451+91_2451+92del NP_000079.2:n.2451+91_2451+92del
XM_005257058.3:c.2451+91_2451+92del XP_005257115.2:n.2451+91_2451+92del
XM_005257059.3:c.1533+91_1533+92del XP_005257116.2:n.1533+91_1533+92del
XM_011524341.1:c.2253+91_2253+92del XP_011522643.1:n.2253+91_2253+92del
XM_005257058.4:c.2451+91_2451+92del XP_005257115.2:n.2451+91_2451+92del
XM_005257059.4:c.1533+91_1533+92del XP_005257116.2:n.1533+91_1533+92del
NM_000088.4:c.2451+91_2451+92del MANE Select NP_000079.2:n.2451+91_2451+92del
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