Linked Data
dbSNP Id:
rs758202019
gnomAD v2:
7-100230915-T-TGGACCTTCCCGG
gnomAD v4:
7-100633292-T-TGGACCTTCCCGG
MyVariant Identifiers:
chr7:g.100230915_100230916insGGACCTTCCCGG (hg19)
chr7:g.100633292_100633293insGGACCTTCCCGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633292_100633293insGGACCTTCCCGG , CM000669.2:g.100633292_100633293insGGACCTTCCCGG | GRCh38 |
| NC_000007.13:g.100230915_100230916insGGACCTTCCCGG , CM000669.1:g.100230915_100230916insGGACCTTCCCGG | GRCh37 |
| NC_000007.12:g.100068851_100068852insGGACCTTCCCGG | NCBI36 |
| NG_007989.1:g.13258_13259insCCGGGAAGGTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.662_663insCCGGGAAGGTCC MANE Select | ENSP00000223051.3:p.Gly221_Glu222insArgGluGlyPro | |
| ENST00000223051.7:c.662_663insCCGGGAAGGTCC | ENSP00000223051.3:p.Gly221_Glu222insArgGluGlyPro | |
| ENST00000431692.5:c.662_663insCCGGGAAGGTCC | ENSP00000413905.1:p.Gly221_Glu222insArgGluGlyPro | |
| ENST00000462107.1:c.662_663insCCGGGAAGGTCC | ENSP00000420525.1:p.Gly221_Glu222insArgGluGlyPro | |
| ENST00000465294.5:n.667_668insCCGGGAAGGTCC | ||
| ENST00000473374.5:n.112_113insCCGGGAAGGTCC | ||
| ENST00000473571.1:n.116_117insCCGGGAAGGTCC | ||
| ENST00000475011.1:n.191_192insCCGGGAAGGTCC | ||
| ENST00000476304.5:n.283_284insCCGGGAAGGTCC | ||
| NM_001206855.1:c.149_150insCCGGGAAGGTCC | NP_001193784.1:p.Gly50_Glu51insArgGluGlyPro | |
| NM_003227.3:c.662_663insCCGGGAAGGTCC | NP_003218.2:p.Gly221_Glu222insArgGluGlyPro | |
| XM_005250553.3:c.662_663insCCGGGAAGGTCC | XP_005250610.1:p.Gly221_Glu222insArgGluGlyPro | |
| XM_005250554.3:c.662_663insCCGGGAAGGTCC | XP_005250611.1:p.Gly221_Glu222insArgGluGlyPro | |
| NM_001206855.2:c.149_150insCCGGGAAGGTCC | NP_001193784.1:p.Gly50_Glu51insArgGluGlyPro | |
| XM_005250553.4:c.662_663insCCGGGAAGGTCC | XP_005250610.1:p.Gly221_Glu222insArgGluGlyPro | |
| XM_017012573.1:c.662_663insCCGGGAAGGTCC | XP_016868062.1:p.Gly221_Glu222insArgGluGlyPro | |
| NM_003227.4:c.662_663insCCGGGAAGGTCC MANE Select | NP_003218.2:p.Gly221_Glu222insArgGluGlyPro | |
| NM_001206855.3:c.149_150insCCGGGAAGGTCC | NP_001193784.1:p.Gly50_Glu51insArgGluGlyPro |