Linked Data
dbSNP Id:
rs1473040695
gnomAD v3:
14-74493409-G-GCGCCC
gnomAD v4:
14-74493409-G-GCGCCC
MyVariant Identifiers:
chr14:g.74960112_74960113insCGCCC (hg19)
chr14:g.74493409_74493410insCGCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493416_74493420dup , CM000676.2:g.74493416_74493420dup | GRCh38 |
| NC_000014.8:g.74960119_74960123dup , CM000676.1:g.74960119_74960123dup | GRCh37 |
| NC_000014.7:g.74029872_74029876dup | NCBI36 |
| NG_007117.1:g.4968_4972dup | |
| NG_033074.1:g.4697_4701dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-63-77_-63-73dup | ENSP00000450887.1:n.-63-77_-63-73dup | |
| ENST00000555619.5:c.-140_-136dup | ENSP00000451112.1:n.-140_-136dup | |
| ENST00000556009.5:c.147+617_147+621dup | ||
| NM_001363688.1:c.-140_-136dup | NP_001350617.1:n.-140_-136dup | |
| NM_006432.4:c.-140_-136dup | NP_006423.1:n.-140_-136dup |