Canonical Allele Identifier: CA2210143205

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169602_16169608delinsGTGCAGC , CM000678.2:g.16169602_16169608delinsGTGCAGC	GRCh38
NC_000016.9:g.16263459_16263465delinsGTGCAGC , CM000678.1:g.16263459_16263465delinsGTGCAGC	GRCh37
NC_000016.8:g.16170960_16170966delinsGTGCAGC	NCBI36
NG_007558.2:g.58864_58870delinsGCTGCAC
NG_007558.3:g.59010_59016delinsGCTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2995+38_2995+44delinsGCTGCAC	ENSP00000483331.2:n.2995+38_2995+44delinsGCTGCAC
ENST00000205557.12:c.2995+38_2995+44delinsGCTGCAC MANE Select	ENSP00000205557.7:n.2995+38_2995+44delinsGCTGCAC
ENST00000205557.11:c.2995+38_2995+44delinsGCTGCAC	ENSP00000205557.7:n.2995+38_2995+44delinsGCTGCAC
ENST00000456970.6:c.2820+38_2820+44delinsGCTGCAC	ENSP00000405002.2:n.2820+38_2820+44delinsGCTGCAC
ENST00000622290.4:c.*204+38_*204+44delinsGCTGCAC	ENSP00000483331.1:n.*204+38_*204+44delinsGCTGCAC
NM_001171.5:c.2995+38_2995+44delinsGCTGCAC	NP_001162.4:n.2995+38_2995+44delinsGCTGCAC
XM_011522479.1:c.2962+38_2962+44delinsGCTGCAC	XP_011520781.1:n.2962+38_2962+44delinsGCTGCAC
XM_011522480.1:c.2653+38_2653+44delinsGCTGCAC	XP_011520782.1:n.2653+38_2653+44delinsGCTGCAC
XM_011522481.1:c.2653+38_2653+44delinsGCTGCAC	XP_011520783.1:n.2653+38_2653+44delinsGCTGCAC
XR_932836.1:n.3230+38_3230+44delinsGCTGCAC
XR_932837.1:n.3231+38_3231+44delinsGCTGCAC
XR_932838.1:n.3231+38_3231+44delinsGCTGCAC
NM_001351800.1:c.2653+38_2653+44delinsGCTGCAC	NP_001338729.1:n.2653+38_2653+44delinsGCTGCAC
NR_147784.1:n.2857+38_2857+44delinsGCTGCAC
XM_011522479.2:c.2962+38_2962+44delinsGCTGCAC	XP_011520781.1:n.2962+38_2962+44delinsGCTGCAC
XM_011522481.3:c.2653+38_2653+44delinsGCTGCAC	XP_011520783.1:n.2653+38_2653+44delinsGCTGCAC
XM_017023212.1:c.2827+38_2827+44delinsGCTGCAC	XP_016878701.1:n.2827+38_2827+44delinsGCTGCAC
XM_017023214.1:c.2995+38_2995+44delinsGCTGCAC	XP_016878703.1:n.2995+38_2995+44delinsGCTGCAC
XM_024450261.1:c.3031+38_3031+44delinsGCTGCAC	XP_024306029.1:n.3031+38_3031+44delinsGCTGCAC
XR_932836.2:n.3176+38_3176+44delinsGCTGCAC
XR_932837.3:n.3176+38_3176+44delinsGCTGCAC
XR_932838.3:n.3176+38_3176+44delinsGCTGCAC
NM_001171.6:c.2995+38_2995+44delinsGCTGCAC MANE Select	NP_001162.5:n.2995+38_2995+44delinsGCTGCAC