Canonical Allele Identifier: CA1873365464
Gene: ALAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388794_113388814delinsTTGCTTCACCGGGCCGTGTTC , CM000671.2:g.113388794_113388814delinsTTGCTTCACCGGGCCGTGTTC GRCh38
NC_000009.11:g.116151074_116151094delinsTTGCTTCACCGGGCCGTGTTC , CM000671.1:g.116151074_116151094delinsTTGCTTCACCGGGCCGTGTTC GRCh37
NC_000009.10:g.115190895_115190915delinsTTGCTTCACCGGGCCGTGTTC NCBI36
NG_008716.1:g.17525_17545delinsGAACACGGCCCGGTGAAGCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.931+163_931+183delinsGAACACGGCCCGGTGAAGCAA MANE Select ENSP00000386284.3:n.931+163_931+183delinsGAACACGGCCCGGTGAAGCA...
ENST00000409155.7:c.931+163_931+183delinsGAACACGGCCCGGTGAAGCAA ENSP00000386284.3:n.931+163_931+183delinsGAACACGGCCCGGTGAAGCA...
ENST00000482847.5:n.1204+163_1204+183delinsGAACACGGCCCGGTGAAGCAA
NM_000031.5:c.931+163_931+183delinsGAACACGGCCCGGTGAAGCAA NP_000022.3:n.931+163_931+183delinsGAACACGGCCCGGTGAAGCAA
XM_005251799.1:c.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA XP_005251856.1:n.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA...
XM_011518363.1:c.1057+163_1057+183delinsGAACACGGCCCGGTGAAGCAA XP_011516665.1:n.1057+163_1057+183delinsGAACACGGCCCGGTGAAGCAA...
XM_011518364.1:c.958+163_958+183delinsGAACACGGCCCGGTGAAGCAA XP_011516666.1:n.958+163_958+183delinsGAACACGGCCCGGTGAAGCAA
NM_001003945.2:c.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA NP_001003945.1:n.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA...
NM_001317745.1:c.907+163_907+183delinsGAACACGGCCCGGTGAAGCAA NP_001304674.1:n.907+163_907+183delinsGAACACGGCCCGGTGAAGCAA
XM_011518364.2:c.958+163_958+183delinsGAACACGGCCCGGTGAAGCAA XP_011516666.1:n.958+163_958+183delinsGAACACGGCCCGGTGAAGCAA
XM_024447449.1:c.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA XP_024303217.1:n.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA...
NM_000031.6:c.931+163_931+183delinsGAACACGGCCCGGTGAAGCAA MANE Select NP_000022.3:n.931+163_931+183delinsGAACACGGCCCGGTGAAGCAA
NM_001003945.3:c.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA NP_001003945.1:n.1018+163_1018+183delinsGAACACGGCCCGGTGAAGCAA...
NM_001317745.2:c.907+163_907+183delinsGAACACGGCCCGGTGAAGCAA NP_001304674.1:n.907+163_907+183delinsGAACACGGCCCGGTGAAGCAA