Linked Data
dbSNP Id:
rs1463674467
gnomAD v3:
9-133730141-T-TCATC
gnomAD v4:
9-133730141-T-TCATC
MyVariant Identifiers:
chr9:g.136595263_136595264insCATC (hg19)
chr9:g.133730141_133730142insCATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133730143_133730146dup , CM000671.2:g.133730143_133730146dup | GRCh38 |
| NC_000009.11:g.136595265_136595268dup , CM000671.1:g.136595265_136595268dup | GRCh37 |
| NC_000009.10:g.135585086_135585089dup | NCBI36 |
| NG_008987.1:g.14811_14814dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.733_736dup MANE Select | ENSP00000403084.1:p.Asp246GlyfsTer2 | |
| ENST00000298628.6:c.733_736dup | ENSP00000298628.5:p.Asp246GlyfsTer2 | |
| ENST00000371867.5:c.466_469dup | ENSP00000360933.1:p.Asp157GlyfsTer2 | |
| ENST00000371872.8:c.733_736dup | ENSP00000360938.4:p.Asp246GlyfsTer2 | |
| ENST00000422262.6:c.-108_-105dup | ENSP00000415537.3:n.-108_-105dup | |
| ENST00000427237.6:c.733_736dup | ENSP00000394210.2:p.Asp246GlyfsTer2 | |
| ENST00000439388.5:c.733_736dup | ENSP00000403084.1:p.Asp246GlyfsTer2 | |
| ENST00000616662.4:c.733_736dup | ENSP00000484683.1:p.Asp246GlyfsTer2 | |
| NM_001134707.1:c.733_736dup | NP_001128179.1:p.Asp246GlyfsTer2 | |
| NM_007101.3:c.733_736dup | NP_009032.2:p.Asp246GlyfsTer2 | |
| XM_006716990.2:c.733_736dup | XP_006717053.1:p.Asp246GlyfsTer2 | |
| XM_011518333.1:c.733_736dup | XP_011516635.1:p.Asp246GlyfsTer2 | |
| XR_929726.1:n.900_903dup | ||
| XR_929727.1:n.900_903dup | ||
| XR_929728.1:n.900_903dup | ||
| XM_017014367.1:c.733_736dup | XP_016869856.1:p.Asp246GlyfsTer2 | |
| XM_017014368.1:c.733_736dup | XP_016869857.1:p.Asp246GlyfsTer2 | |
| XR_001746213.1:n.1029_1032dup | ||
| XR_001746214.1:n.2212_2215dup | ||
| XR_001746215.1:n.1031_1034dup | ||
| XR_001746216.1:n.1029_1032dup | ||
| XR_001746217.1:n.1029_1032dup | ||
| XR_001746218.1:n.1029_1032dup | ||
| XR_929726.2:n.900_903dup | ||
| NM_001134707.2:c.733_736dup MANE Select | NP_001128179.1:p.Asp246GlyfsTer2 | |
| NM_007101.4:c.733_736dup | NP_009032.2:p.Asp246GlyfsTer2 |