Canonical Allele Identifier: CA2568318641

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154699_16154700insGCGAGCATCAAGCGGGCGATTTCACCGCCGGAGGCTGTTTCGGCGAGATCGCGCGGCGGCA , CM000678.2:g.16154699_16154700insGCGAGCATCAAGCGGGCGATTTCACCGCCGGAGGCTGTTTCGGCGAGATCGCGCGGCGGCA	GRCh38
NC_000016.9:g.16248556_16248557insGCGAGCATCAAGCGGGCGATTTCACCGCCGGAGGCTGTTTCGGCGAGATCGCGCGGCGGCA , CM000678.1:g.16248556_16248557insGCGAGCATCAAGCGGGCGATTTCACCGCCGGAGGCTGTTTCGGCGAGATCGCGCGGCGGCA	GRCh37
NC_000016.8:g.16156057_16156058insGCGAGCATCAAGCGGGCGATTTCACCGCCGGAGGCTGTTTCGGCGAGATCGCGCGGCGGCA	NCBI36
NG_007558.2:g.73772_73773insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC
NG_007558.3:g.73918_73919insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*308_*309insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	ENSP00000483331.2:n.*308_*309insTGCCGCCGCGCGATCTCGCCGAAACAGCC...
ENST00000205557.12:c.4136_4137insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC MANE Select	ENSP00000205557.7:p.Gln1379HisfsTer14
ENST00000640696.1:c.950_951insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	ENSP00000492197.1:p.Gln317HisfsTer14
ENST00000205557.11:c.4136_4137insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	ENSP00000205557.7:p.Gln1379HisfsTer14
ENST00000456970.6:c.3761_3762insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	ENSP00000405002.2:n.3761_3762insTGCCGCCGCGCGATCTCGCCGAAACAGCC...
ENST00000576204.5:n.999_1000insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC
ENST00000622290.4:c.*1345_*1346insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	ENSP00000483331.1:n.*1345_*1346insTGCCGCCGCGCGATCTCGCCGAAACAG...
NM_001171.5:c.4136_4137insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	NP_001162.4:p.Gln1379HisfsTer14
XM_011522479.1:c.4103_4104insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_011520781.1:p.Gln1368HisfsTer14
XM_011522480.1:c.3794_3795insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_011520782.1:p.Gln1265HisfsTer14
XM_011522481.1:c.3794_3795insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_011520783.1:p.Gln1265HisfsTer14
XR_933134.1:n.539-5082_539-5081insGCGAGCATCAAGCGGGCGATTTCACCGCCGGAGGCTGTTTCGGCGAGATCGCGCGGCGGCA
NM_001351800.1:c.3794_3795insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	NP_001338729.1:p.Gln1265HisfsTer14
NR_147784.1:n.3798_3799insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC
XM_011522479.2:c.4103_4104insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_011520781.1:p.Gln1368HisfsTer14
XM_011522481.3:c.3794_3795insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_011520783.1:p.Gln1265HisfsTer14
XM_017023212.1:c.3968_3969insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_016878701.1:p.Gln1323HisfsTer14
XM_024450261.1:c.4172_4173insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC	XP_024306029.1:p.Gln1391HisfsTer14
NM_001171.6:c.4136_4137insTGCCGCCGCGCGATCTCGCCGAAACAGCCTCCGGCGGTGAAATCGCCCGCTTGATGCTCGC MANE Select	NP_001162.5:p.Gln1379HisfsTer14