Canonical Allele Identifier: CA2638708989
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50188393-TAAGGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188394_50188399del , CM000679.2:g.50188394_50188399del GRCh38
NC_000017.10:g.48265755_48265760del , CM000679.1:g.48265755_48265760del GRCh37
NC_000017.9:g.45620754_45620759del NCBI36
NG_007400.1:g.18241_18246del , LRG_1:g.18241_18246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3207+131_3207+136del MANE Select ENSP00000225964.6:n.3207+131_3207+136del
ENST00000225964.9:c.3207+131_3207+136del ENSP00000225964.5:n.3207+131_3207+136del
ENST00000486572.1:n.156_161del
ENST00000511732.1:n.282_287del
NM_000088.3:c.3207+131_3207+136del , LRG_1t1:c.3207+131_3207+136del NP_000079.2:n.3207+131_3207+136del
XM_005257058.3:c.2937+131_2937+136del XP_005257115.2:n.2937+131_2937+136del
XM_005257059.3:c.2289+131_2289+136del XP_005257116.2:n.2289+131_2289+136del
XM_011524341.1:c.3009+131_3009+136del XP_011522643.1:n.3009+131_3009+136del
XM_005257058.4:c.2937+131_2937+136del XP_005257115.2:n.2937+131_2937+136del
XM_005257059.4:c.2289+131_2289+136del XP_005257116.2:n.2289+131_2289+136del
NM_000088.4:c.3207+131_3207+136del MANE Select NP_000079.2:n.3207+131_3207+136del
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