Linked Data
dbSNP Id:
rs1330855038
gnomAD v3:
14-54888315-A-AGTCAACAGGGCC
gnomAD v4:
14-54888315-A-AGTCAACAGGGCC
MyVariant Identifiers:
chr14:g.55355033_55355034insGTCAACAGGGCC (hg19)
chr14:g.54888315_54888316insGTCAACAGGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54888315_54888316insGTCAACAGGGCC , CM000676.2:g.54888315_54888316insGTCAACAGGGCC | GRCh38 |
| NC_000014.8:g.55355033_55355034insGTCAACAGGGCC , CM000676.1:g.55355033_55355034insGTCAACAGGGCC | GRCh37 |
| NC_000014.7:g.54424783_54424784insGTCAACAGGGCC | NCBI36 |
| NG_008647.1:g.19509_19510insGGCCCTGTTGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.343+14005_343+14006insGGCCCTGTTGAC MANE Select | ENSP00000419045.2:n.343+14005_343+14006insGGCCCTGTTGAC | |
| ENST00000254299.8:n.491+14005_491+14006insGGCCCTGTTGAC | ||
| ENST00000395514.5:c.343+14005_343+14006insGGCCCTGTTGAC | ENSP00000378890.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| ENST00000395521.6:n.126+14005_126+14006insGGCCCTGTTGAC | ||
| ENST00000491895.6:c.343+14005_343+14006insGGCCCTGTTGAC | ENSP00000419045.2:n.343+14005_343+14006insGGCCCTGTTGAC | |
| ENST00000536224.2:c.343+14005_343+14006insGGCCCTGTTGAC | ENSP00000445246.2:n.343+14005_343+14006insGGCCCTGTTGAC | |
| ENST00000543643.6:c.343+14005_343+14006insGGCCCTGTTGAC | ENSP00000444011.2:n.343+14005_343+14006insGGCCCTGTTGAC | |
| ENST00000622544.4:c.343+14005_343+14006insGGCCCTGTTGAC | ENSP00000477796.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_000161.2:c.343+14005_343+14006insGGCCCTGTTGAC | NP_000152.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_001024024.1:c.343+14005_343+14006insGGCCCTGTTGAC | NP_001019195.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_001024070.1:c.343+14005_343+14006insGGCCCTGTTGAC | NP_001019241.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_001024071.1:c.343+14005_343+14006insGGCCCTGTTGAC | NP_001019242.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| XM_005267530.1:c.343+14005_343+14006insGGCCCTGTTGAC | XP_005267587.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| XM_011536643.1:c.343+14005_343+14006insGGCCCTGTTGAC | XP_011534945.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_000161.3:c.343+14005_343+14006insGGCCCTGTTGAC MANE Select | NP_000152.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_001024070.2:c.343+14005_343+14006insGGCCCTGTTGAC | NP_001019241.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_001024071.2:c.343+14005_343+14006insGGCCCTGTTGAC | NP_001019242.1:n.343+14005_343+14006insGGCCCTGTTGAC | |
| NM_001024024.2:c.343+14005_343+14006insGGCCCTGTTGAC | NP_001019195.1:n.343+14005_343+14006insGGCCCTGTTGAC |