Canonical Allele Identifier: CA2112099078
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95061487_95061491delinsTAAAC , CM000675.2:g.95061487_95061491delinsTAAAC GRCh38
NC_000013.10:g.95713741_95713745delinsTAAAC , CM000675.1:g.95713741_95713745delinsTAAAC GRCh37
NC_000013.9:g.94511742_94511746delinsTAAAC NCBI36
NG_050651.1:g.244956_244960delinsGTTTA
NG_050651.2:g.244956_244960delinsGTTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000643051.1:c.*991+1213_*991+1217delinsGTTTA ENSP00000495513.1:n.*991+1213_*991+1217de...
ENST00000643842.1:c.*3412+1213_*3412+1217delinsGTTTA ENSP00000493861.1:n.*3412+1213_*3412+1217...
ENST00000645237.2:c.3366+1213_3366+1217delinsGTTTA MANE Select ENSP00000494609.1:n.3366+1213_3366+1217de...
ENST00000646439.1:c.3225+1213_3225+1217delinsGTTTA ENSP00000494751.1:n.3225+1213_3225+1217de...
ENST00000376887.8:c.3366+1213_3366+1217delinsGTTTA ENSP00000366084.4:n.3366+1213_3366+1217de...
NM_001301829.1:c.3225+1213_3225+1217delinsGTTTA NP_001288758.1:n.3225+1213_3225+1217delin...
NM_005845.4:c.3366+1213_3366+1217delinsGTTTA NP_005836.2:n.3366+1213_3366+1217delinsGT...
XM_005254025.2:c.3237+1213_3237+1217delinsGTTTA XP_005254082.1:n.3237+1213_3237+1217delin...
XM_006719914.1:c.3276+1213_3276+1217delinsGTTTA XP_006719977.1:n.3276+1213_3276+1217delin...
XM_011521047.1:c.2817+1213_2817+1217delinsGTTTA XP_011519349.1:n.2817+1213_2817+1217delin...
XM_017020319.1:c.3237+1213_3237+1217delinsGTTTA XP_016875808.1:n.3237+1213_3237+1217delin...
XM_017020321.1:c.1851+1213_1851+1217delinsGTTTA XP_016875810.1:n.1851+1213_1851+1217delin...
NM_001301829.2:c.3225+1213_3225+1217delinsGTTTA NP_001288758.1:n.3225+1213_3225+1217delin...
NM_005845.5:c.3366+1213_3366+1217delinsGTTTA MANE Select NP_005836.2:n.3366+1213_3366+1217delinsGT...