Canonical Allele Identifier: CA278666374
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16202058_16202090delinsGCCTGTACATGTTCTGCTGCTCAAACAGCGTTT , CM000678.2:g.16202058_16202090delinsGCCTGTACATGTTCTGCTGCTCAAACAGCGTTT GRCh38
NC_000016.9:g.16295915_16295947delinsGCCTGTACATGTTCTGCTGCTCAAACAGCGTTT , CM000678.1:g.16295915_16295947delinsGCCTGTACATGTTCTGCTGCTCAAACAGCGTTT GRCh37
NC_000016.8:g.16203416_16203448delinsGCCTGTACATGTTCTGCTGCTCAAACAGCGTTT NCBI36
NG_007558.2:g.26382_26414delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
NG_007558.3:g.26528_26560delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC ENSP00000507301.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgT...
ENST00000622290.5:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC ENSP00000483331.2:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgT...
ENST00000205557.12:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC MANE Select ENSP00000205557.7:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgT...
ENST00000205557.11:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC ENSP00000205557.7:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgT...
ENST00000456970.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC ENSP00000405002.2:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgT...
ENST00000574094.5:n.1183_1215delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
ENST00000577103.1:c.*954_*986delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC ENSP00000459243.1:n.*954_*986delinsAAACGCTGTTTGAGCAGCAGAACATG...
ENST00000622290.4:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC ENSP00000483331.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgT...
NM_001171.5:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC NP_001162.4:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysT...
XM_011522479.1:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520781.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrC...
XM_011522480.1:c.745_777delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520782.1:p.Gln249_Arg259delinsLysArgCysLeuSerSerArgThrC...
XM_011522481.1:c.745_777delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520783.1:p.Gln249_Arg259delinsLysArgCysLeuSerSerArgThrC...
XM_011522482.1:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520784.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrC...
XR_932836.1:n.1322_1354delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
XR_932837.1:n.1323_1355delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
XR_932838.1:n.1323_1355delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
NM_001351800.1:c.745_777delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC NP_001338729.1:p.Gln249_Arg259delinsLysArgCysLeuSerSerArgThrC...
NR_147784.1:n.1124_1156delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
XM_011522479.2:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520781.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrC...
XM_011522481.3:c.745_777delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520783.1:p.Gln249_Arg259delinsLysArgCysLeuSerSerArgThrC...
XM_011522482.3:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_011520784.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrC...
XM_017023212.1:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_016878701.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrC...
XM_017023214.1:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_016878703.1:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrC...
XM_024450261.1:c.1123_1155delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC XP_024306029.1:p.Gln375_Arg385delinsLysArgCysLeuSerSerArgThrC...
XR_932836.2:n.1268_1300delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
XR_932837.3:n.1268_1300delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
XR_932838.3:n.1268_1300delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC
NM_001171.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC MANE Select NP_001162.5:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysT...