Canonical Allele Identifier: CA7925782

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1646780
• ClinVar RCV Id: RCV002151309
• dbSNP Id: rs760411795
• ExAC: 16:16263721 CAT / C
• gnomAD v2: 16-16263721-CAT-C
• gnomAD v3: 16-16169864-CAT-C
• gnomAD v4: 16-16169864-CAT-C
• MyVariant Identifiers: chr16:g.16263722_16263723del (hg19) ; chr16:g.16169865_16169866del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169865_16169866del , CM000678.2:g.16169865_16169866del	GRCh38
NC_000016.9:g.16263722_16263723del , CM000678.1:g.16263722_16263723del	GRCh37
NC_000016.8:g.16171223_16171224del	NCBI36
NG_007558.2:g.58606_58607del
NG_007558.3:g.58752_58753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2788-13_2788-12del	ENSP00000483331.2:n.2788-13_2788-12del
ENST00000205557.12:c.2788-13_2788-12del MANE Select	ENSP00000205557.7:n.2788-13_2788-12del
ENST00000205557.11:c.2788-13_2788-12del	ENSP00000205557.7:n.2788-13_2788-12del
ENST00000456970.6:c.2613-13_2613-12del	ENSP00000405002.2:n.2613-13_2613-12del
ENST00000622290.4:c.2613-13_2613-12del	ENSP00000483331.1:n.2613-13_2613-12del
NM_001171.5:c.2788-13_2788-12del	NP_001162.4:n.2788-13_2788-12del
XM_011522479.1:c.2755-13_2755-12del	XP_011520781.1:n.2755-13_2755-12del
XM_011522480.1:c.2446-13_2446-12del	XP_011520782.1:n.2446-13_2446-12del
XM_011522481.1:c.2446-13_2446-12del	XP_011520783.1:n.2446-13_2446-12del
XR_932836.1:n.3023-13_3023-12del
XR_932837.1:n.3024-13_3024-12del
XR_932838.1:n.3024-13_3024-12del
NM_001351800.1:c.2446-13_2446-12del	NP_001338729.1:n.2446-13_2446-12del
NR_147784.1:n.2650-13_2650-12del
XM_011522479.2:c.2755-13_2755-12del	XP_011520781.1:n.2755-13_2755-12del
XM_011522481.3:c.2446-13_2446-12del	XP_011520783.1:n.2446-13_2446-12del
XM_017023212.1:c.2620-13_2620-12del	XP_016878701.1:n.2620-13_2620-12del
XM_017023214.1:c.2788-13_2788-12del	XP_016878703.1:n.2788-13_2788-12del
XM_024450261.1:c.2824-13_2824-12del	XP_024306029.1:n.2824-13_2824-12del
XR_932836.2:n.2969-13_2969-12del
XR_932837.3:n.2969-13_2969-12del
XR_932838.3:n.2969-13_2969-12del
NM_001171.6:c.2788-13_2788-12del MANE Select	NP_001162.5:n.2788-13_2788-12del