Linked Data
dbSNP Id:
rs1392161265
MyVariant Identifiers:
chr21:g.34398633_34398634insTGTGCG (hg19)
chr21:g.33026325_33026326insTGTGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33026336_33026341dup , CM000683.2:g.33026336_33026341dup | GRCh38 |
| NC_000021.8:g.34398644_34398649dup , CM000683.1:g.34398644_34398649dup | GRCh37 |
| NC_000021.7:g.33320514_33320519dup | NCBI36 |
| NG_011834.1:g.5406_5411dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382357.4:c.-63+310_-63+315dup MANE Select | ENSP00000371794.3:n.-63+310_-63+315dup | |
| ENST00000333337.3:c.-527_-522dup | ENSP00000331040.3:n.-527_-522dup | |
| ENST00000382357.3:c.-63+310_-63+315dup | ENSP00000371794.3:n.-63+310_-63+315dup | |
| ENST00000430860.1:c.-63+76_-63+81dup | ENSP00000391183.1:n.-63+76_-63+81dup | |
| NM_005806.3:c.-63+310_-63+315dup | NP_005797.1:n.-63+310_-63+315dup | |
| XM_005260908.1:c.-63+76_-63+81dup | XP_005260965.1:n.-63+76_-63+81dup | |
| NM_005806.4:c.-63+310_-63+315dup MANE Select | NP_005797.1:n.-63+310_-63+315dup |