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:
190353
ClinVar RCV Id:
RCV000192155
dbSNP Id:
rs797044584
MyVariant Identifiers:
chr17:g.42988683_42988684insCAAGTG (hg19)
chr17:g.44911315_44911316insCAAGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911315_44911316insCAAGTG , CM000679.2:g.44911315_44911316insCAAGTG | GRCh38 |
| NC_000017.10:g.42988683_42988684insCAAGTG , CM000679.1:g.42988683_42988684insCAAGTG | GRCh37 |
| NC_000017.9:g.40344209_40344210insCAAGTG | NCBI36 |
| NG_008401.1:g.9233_9234insCTTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1049_1050insCTTGCA | ENSP00000253408.5:p.Tyr349_Gln350insHisLeu | |
| ENST00000435360.8:c.1049_1050insCTTGCA | ENSP00000403962.1:p.Tyr349_Gln350insHisLeu | |
| ENST00000253408.10:c.1049_1050insCTTGCA | ENSP00000253408.5:p.Tyr349_Gln350insHisLeu | |
| ENST00000435360.7:c.1049_1050insCTTGCA | ENSP00000403962.1:p.Tyr349_Gln350insHisLeu | |
| ENST00000585543.6:n.202_203insCTTGCA | ||
| ENST00000586127.6:n.1578_1579insCTTGCA | ||
| ENST00000586793.6:c.914_915insCTTGCA | ENSP00000468500.2:p.Tyr304_Gln305insHisLeu | |
| ENST00000587997.6:n.525_526insCTTGCA | ||
| ENST00000588735.3:c.1049_1050insCTTGCA MANE Select | ENSP00000466598.2:p.Tyr349_Gln350insHisLeu | |
| ENST00000591327.2:n.2203_2204insCTTGCA | ||
| ENST00000592320.6:c.626_627insCTTGCA | ENSP00000465320.1:p.Tyr208_Gln209insHisLeu | |
| ENST00000638281.1:c.1049_1050insCTTGCA | ENSP00000491088.1:p.Tyr349_Gln350insHisLeu | |
| ENST00000638618.1:c.704_705insCTTGCA | ENSP00000492832.1:p.Tyr234_Gln235insHisLeu | |
| ENST00000639277.1:c.1049_1050insCTTGCA | ENSP00000492432.1:p.Tyr349_Gln350insHisLeu | |
| ENST00000639921.1:c.6_7insCTTGCA | ||
| ENST00000640552.1:n.1063_1064insCTTGCA | ||
| ENST00000253408.9:c.1049_1050insCTTGCA | ENSP00000253408.4:p.Tyr349_Gln350insHisLeu | |
| ENST00000376990.8:c.*448_*449insCTTGCA | ENSP00000366189.4:n.*448_*449insCTTGCA | |
| ENST00000435360.6:c.1049_1050insCTTGCA | ENSP00000403962.1:p.Tyr349_Gln350insHisLeu | |
| ENST00000585543.5:n.202_203insCTTGCA | ||
| ENST00000586793.5:c.1049_1050insCTTGCA | ENSP00000468500.1:p.Tyr349_Gln350insHisLeu | |
| ENST00000587997.5:c.525_526insCTTGCA | ||
| ENST00000588640.5:n.429_430insCTTGCA | ||
| ENST00000588735.1:c.83-3198_83-3197insCTTGCA | ENSP00000466598.1:n.83-3198_83-3197insCTTGCA | |
| ENST00000592320.5:c.626_627insCTTGCA | ENSP00000465320.1:p.Tyr208_Gln209insHisLeu | |
| NM_001131019.2:c.1049_1050insCTTGCA | NP_001124491.1:p.Tyr349_Gln350insHisLeu | |
| NM_001242376.1:c.1049_1050insCTTGCA | NP_001229305.1:p.Tyr349_Gln350insHisLeu | |
| NM_002055.4:c.1049_1050insCTTGCA | NP_002046.1:p.Tyr349_Gln350insHisLeu | |
| NM_001363846.1:c.1049_1050insCTTGCA | NP_001350775.1:p.Tyr349_Gln350insHisLeu | |
| XM_024450690.1:c.1253_1254insCTTGCA | XP_024306458.1:p.Tyr417_Gln418insHisLeu | |
| XM_024450691.1:c.1253_1254insCTTGCA | XP_024306459.1:p.Tyr417_Gln418insHisLeu | |
| XM_024450692.1:c.1253_1254insCTTGCA | XP_024306460.1:p.Tyr417_Gln418insHisLeu | |
| XM_024450693.1:c.1253_1254insCTTGCA | XP_024306461.1:p.Tyr417_Gln418insHisLeu | |
| NM_002055.5:c.1049_1050insCTTGCA MANE Select | NP_002046.1:p.Tyr349_Gln350insHisLeu | |
| NM_001131019.3:c.1049_1050insCTTGCA | NP_001124491.1:p.Tyr349_Gln350insHisLeu | |
| NM_001242376.2:c.1049_1050insCTTGCA | NP_001229305.1:p.Tyr349_Gln350insHisLeu | |
| NM_001242376.3:c.1049_1050insCTTGCA | NP_001229305.1:p.Tyr349_Gln350insHisLeu | |
| NM_001363846.2:c.1049_1050insCTTGCA | NP_001350775.1:p.Tyr349_Gln350insHisLeu |