Canonical Allele Identifier: CA2573151864

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1511071
• ClinVar RCV Id: RCV002014326 ; RCV002479778
• dbSNP Id: rs2152278438

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198126_16198127delinsGC , CM000678.2:g.16198126_16198127delinsGC	GRCh38
NC_000016.9:g.16291983_16291984delinsGC , CM000678.1:g.16291983_16291984delinsGC	GRCh37
NC_000016.8:g.16199484_16199485delinsGC	NCBI36
NG_007558.2:g.30345_30346delinsGC
NG_007558.3:g.30491_30492delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1232_1233delinsGC	ENSP00000507301.1:p.Asn411Ser
ENST00000622290.5:c.1232_1233delinsGC	ENSP00000483331.2:p.Asn411Ser
ENST00000205557.12:c.1232_1233delinsGC MANE Select	ENSP00000205557.7:p.Asn411Ser
ENST00000205557.11:c.1232_1233delinsGC	ENSP00000205557.7:p.Asn411Ser
ENST00000456970.6:c.1232_1233delinsGC	ENSP00000405002.2:p.Asn411Ser
ENST00000574094.5:n.1328_1329delinsGC
ENST00000622290.4:c.1232_1233delinsGC	ENSP00000483331.1:p.Asn411Ser
NM_001171.5:c.1232_1233delinsGC	NP_001162.4:p.Asn411Ser
XM_011522479.1:c.1232_1233delinsGC	XP_011520781.1:p.Asn411Ser
XM_011522480.1:c.890_891delinsGC	XP_011520782.1:p.Asn297Ser
XM_011522481.1:c.890_891delinsGC	XP_011520783.1:p.Asn297Ser
XM_011522482.1:c.1232_1233delinsGC	XP_011520784.1:p.Asn411Ser
XR_932836.1:n.1467_1468delinsGC
XR_932837.1:n.1468_1469delinsGC
XR_932838.1:n.1468_1469delinsGC
NM_001351800.1:c.890_891delinsGC	NP_001338729.1:p.Asn297Ser
NR_147784.1:n.1269_1270delinsGC
XM_011522479.2:c.1232_1233delinsGC	XP_011520781.1:p.Asn411Ser
XM_011522481.3:c.890_891delinsGC	XP_011520783.1:p.Asn297Ser
XM_011522482.3:c.1232_1233delinsGC	XP_011520784.1:p.Asn411Ser
XM_017023212.1:c.1232_1233delinsGC	XP_016878701.1:p.Asn411Ser
XM_017023214.1:c.1232_1233delinsGC	XP_016878703.1:p.Asn411Ser
XM_024450261.1:c.1268_1269delinsGC	XP_024306029.1:p.Asn423Ser
XR_932836.2:n.1413_1414delinsGC
XR_932837.3:n.1413_1414delinsGC
XR_932838.3:n.1413_1414delinsGC
NM_001171.6:c.1232_1233delinsGC MANE Select	NP_001162.5:p.Asn411Ser