Canonical Allele Identifier: CA4761486
Community Standard Title: NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter)
Gene: ASPH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.61503453_61503455dup , CM000670.2:g.61503453_61503455dup GRCh38
NC_000008.10:g.62416012_62416014dup , CM000670.1:g.62416012_62416014dup GRCh37
NC_000008.9:g.62578566_62578568dup NCBI36
NG_013210.1:g.216186_216188dup

Transcript Alleles

HGVS Amino-acid Change
NM_004318.4:c.2181_2183dup MANE Select NP_004309.2:p.Trp728Ter
ENST00000379454.9:c.2181_2183dup MANE Select ENSP00000368767.4:p.Trp728Ter
NM_001164750.1:c.2094_2096dup NP_001158222.1:p.Trp699Ter
NM_001164750.2:c.2094_2096dup NP_001158222.1:p.Trp699Ter
NM_004318.3:c.2181_2183dup NP_004309.2:p.Trp728Ter
ENST00000379454.8:c.2181_2183dup ENSP00000368767.4:p.Trp728Ter
ENST00000541428.3:c.2094_2096dup ENSP00000437864.1:p.Trp699Ter
ENST00000541428.5:c.2094_2096dup ENSP00000437864.1:p.Trp699Ter
XM_005251235.1:c.2226_2228dup XP_005251292.1:p.Trp743Ter
XM_005251235.2:c.2226_2228dup XP_005251292.1:p.Trp743Ter
XM_005251236.1:c.2223_2225dup XP_005251293.1:p.Trp742Ter
XM_005251236.2:c.2223_2225dup XP_005251293.1:p.Trp742Ter
XM_005251238.1:c.2181_2183dup XP_005251295.1:p.Trp728Ter
XM_005251239.1:c.2169_2171dup XP_005251296.1:p.Trp724Ter
XM_005251239.2:c.2169_2171dup XP_005251296.1:p.Trp724Ter
XM_005251240.1:c.2139_2141dup XP_005251297.1:p.Trp714Ter
XM_005251241.1:c.2136_2138dup XP_005251298.1:p.Trp713Ter
XM_005251242.2:c.2124_2126dup XP_005251299.1:p.Trp709Ter
XM_005251242.3:c.2124_2126dup XP_005251299.1:p.Trp709Ter
XM_005251243.1:c.2097_2099dup XP_005251300.1:p.Trp700Ter
XM_005251243.2:c.2097_2099dup XP_005251300.1:p.Trp700Ter
XM_005251244.1:c.2079_2081dup XP_005251301.1:p.Trp694Ter
XM_005251246.2:c.2052_2054dup XP_005251303.1:p.Trp685Ter
XM_005251246.3:c.2052_2054dup XP_005251303.1:p.Trp685Ter
XM_005251247.1:c.2040_2042dup XP_005251304.1:p.Trp681Ter
XM_005251247.2:c.2040_2042dup XP_005251304.1:p.Trp681Ter
XM_005251248.1:c.2037_2039dup XP_005251305.1:p.Trp680Ter
XM_005251249.1:c.2010_2012dup XP_005251306.1:p.Trp671Ter
XM_005251250.2:c.1995_1997dup XP_005251307.1:p.Trp666Ter
XM_017013419.1:c.2307_2309dup XP_016868908.1:p.Trp770Ter
XM_017013420.1:c.2304_2306dup XP_016868909.1:p.Trp769Ter
XM_017013421.1:c.2265_2267dup XP_016868910.1:p.Trp756Ter
XM_017013422.2:c.2262_2264dup XP_016868911.1:p.Trp755Ter
XM_017013424.2:c.2259_2261dup XP_016868913.1:p.Trp754Ter
XM_017013425.1:c.2250_2252dup XP_016868914.1:p.Trp751Ter
XM_017013426.1:c.2220_2222dup XP_016868915.1:p.Trp741Ter
XM_017013427.1:c.2217_2219dup XP_016868916.1:p.Trp740Ter
XM_017013428.2:c.2205_2207dup XP_016868917.1:p.Trp736Ter
XM_017013429.2:c.2178_2180dup XP_016868918.1:p.Trp727Ter
XM_017013430.1:c.2178_2180dup XP_016868919.1:p.Trp727Ter
XM_017013431.1:c.2175_2177dup XP_016868920.1:p.Trp726Ter
XM_017013432.1:c.2175_2177dup XP_016868921.1:p.Trp726Ter
XM_017013433.1:c.2172_2174dup XP_016868922.1:p.Trp725Ter
XM_017013434.1:c.2166_2168dup XP_016868923.1:p.Trp723Ter
XM_017013435.1:c.2160_2162dup XP_016868924.1:p.Trp721Ter
XM_017013437.2:c.2133_2135dup XP_016868926.1:p.Trp712Ter
XM_017013438.1:c.2094_2096dup XP_016868927.1:p.Trp699Ter
XM_017013439.1:c.2091_2093dup XP_016868928.1:p.Trp698Ter
XM_017013440.1:c.2091_2093dup XP_016868929.1:p.Trp698Ter
XM_017013444.1:c.1965_1967dup XP_016868933.1:p.Trp656Ter
XM_024447155.1:c.2121_2123dup XP_024302923.1:p.Trp708Ter
XM_024447156.1:c.2118_2120dup XP_024302924.1:p.Trp707Ter