UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
36963
ClinVar RCV Id:
RCV000030643
dbSNP Id:
rs398122875
PubMed:
PMID:20673863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13078616dup , CM000681.2:g.13078616dup | GRCh38 |
| NC_000019.9:g.13189430dup , CM000681.1:g.13189430dup | GRCh37 |
| NC_000019.8:g.13050430dup | NCBI36 |
| NG_032925.2:g.87847dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358552.8:c.952+2945dup | ENSP00000351354.5:n.952+2945dup | |
| ENST00000622520.2:c.956dup | ENSP00000481181.2:p.Ala320GlyfsTer? | |
| ENST00000693124.1:c.773+2945dup | ||
| ENST00000592199.6:c.959dup MANE Select | ENSP00000467512.1:p.Ala321GlyfsTer? | |
| ENST00000676441.1:c.983dup | ENSP00000502554.1:p.Ala329GlyfsTer? | |
| ENST00000358552.7:c.964+2945dup | ENSP00000351354.4:n.964+2945dup | |
| ENST00000360105.8:c.964+2945dup | ENSP00000353219.4:n.964+2945dup | |
| ENST00000397661.6:c.959dup | ENSP00000380781.2:p.Ala321GlyfsTer? | |
| ENST00000585382.5:c.*328dup | ENSP00000466605.1:n.*328dup | |
| ENST00000585575.5:c.935dup | ENSP00000468794.1:p.Ala313GlyfsTer? | |
| ENST00000586797.5:c.*790dup | ENSP00000467536.1:n.*790dup | |
| ENST00000587260.1:c.956dup | ENSP00000467785.1:p.Ala320GlyfsTer? | |
| ENST00000587760.5:c.935dup | ENSP00000466389.1:p.Ala313GlyfsTer? | |
| ENST00000588228.5:c.818dup | ENSP00000466735.1:p.Ala274GlyfsTer? | |
| ENST00000592199.5:c.959dup | ENSP00000467512.1:p.Ala321GlyfsTer? | |
| NM_001271043.2:c.983dup | NP_001257972.1:p.Ala329GlyfsTer? | |
| NM_001271044.2:c.935dup | NP_001257973.1:p.Ala313GlyfsTer? | |
| NM_002501.3:c.959dup | NP_002492.2:p.Ala321GlyfsTer? | |
| XM_005259917.3:c.1132+2945dup | XP_005259974.1:n.1132+2945dup | |
| XM_005259918.3:c.959dup | XP_005259975.1:p.Ala321GlyfsTer? | |
| XM_005259919.3:c.1136dup | XP_005259976.1:p.Ala380GlyfsTer? | |
| XM_005259920.3:c.935dup | XP_005259977.1:p.Ala313GlyfsTer? | |
| XM_005259921.3:c.1136dup | XP_005259978.1:p.Ala380GlyfsTer? | |
| XM_005259922.3:c.1132+2945dup | XP_005259979.1:n.1132+2945dup | |
| XM_006722760.2:c.1132+2945dup | XP_006722823.1:n.1132+2945dup | |
| XM_011528040.1:c.1007dup | XP_011526342.1:p.Ala337GlyfsTer? | |
| NM_001365902.1:c.959dup | NP_001352831.1:p.Ala321GlyfsTer? | |
| NM_001365982.1:c.955+2945dup | NP_001352911.1:n.955+2945dup | |
| NM_001365983.1:c.818dup | NP_001352912.1:p.Ala274GlyfsTer? | |
| NM_001365984.1:c.956dup | NP_001352913.1:p.Ala320GlyfsTer? | |
| NM_001365985.1:c.956dup | NP_001352914.1:p.Ala320GlyfsTer? | |
| XM_005259917.4:c.1132+2945dup | XP_005259974.1:n.1132+2945dup | |
| NM_001271044.3:c.935dup | NP_001257973.1:p.Ala313GlyfsTer? | |
| NM_001365902.2:c.959dup | NP_001352831.1:p.Ala321GlyfsTer? | |
| NM_001365982.2:c.955+2945dup | NP_001352911.1:n.955+2945dup | |
| NM_001365983.2:c.818dup | NP_001352912.1:p.Ala274GlyfsTer? | |
| NM_001365984.2:c.956dup | NP_001352913.1:p.Ala320GlyfsTer? | |
| NM_001365985.2:c.956dup | NP_001352914.1:p.Ala320GlyfsTer? | |
| NM_002501.4:c.959dup | NP_002492.2:p.Ala321GlyfsTer? | |
| NM_001365902.3:c.959dup MANE Select | NP_001352831.1:p.Ala321GlyfsTer? | |
| NM_001378404.1:c.935dup | NP_001365333.1:p.Ala313GlyfsTer? | |
| NM_001378405.1:c.1007dup | NP_001365334.1:p.Ala337GlyfsTer? |