Canonical Allele Identifier: CA7925621

Gene: ABCC6

Linked Data

• dbSNP Id: rs777053081
• ExAC: 16:16257092 CAT / C
• gnomAD v2: 16-16257092-CAT-C
• gnomAD v4: 16-16163235-CAT-C
• MyVariant Identifiers: chr16:g.16257093_16257094del (hg19) ; chr16:g.16163236_16163237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163237_16163238del , CM000678.2:g.16163237_16163238del	GRCh38
NC_000016.9:g.16257094_16257095del , CM000678.1:g.16257094_16257095del	GRCh37
NC_000016.8:g.16164595_16164596del	NCBI36
NG_007558.2:g.65235_65236del
NG_007558.3:g.65381_65382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3307-45_3307-44del	ENSP00000483331.2:n.3307-45_3307-44del
ENST00000205557.12:c.3307-45_3307-44del MANE Select	ENSP00000205557.7:n.3307-45_3307-44del
ENST00000640696.1:c.321-1673_321-1672del	ENSP00000492197.1:n.321-1673_321-1672del
ENST00000205557.11:c.3307-45_3307-44del	ENSP00000205557.7:n.3307-45_3307-44del
ENST00000456970.6:c.3132-1673_3132-1672del	ENSP00000405002.2:n.3132-1673_3132-1672del
ENST00000622290.4:c.*516-45_*516-44del	ENSP00000483331.1:n.*516-45_*516-44del
NM_001171.5:c.3307-45_3307-44del	NP_001162.4:n.3307-45_3307-44del
XM_011522479.1:c.3274-45_3274-44del	XP_011520781.1:n.3274-45_3274-44del
XM_011522480.1:c.2965-45_2965-44del	XP_011520782.1:n.2965-45_2965-44del
XM_011522481.1:c.2965-45_2965-44del	XP_011520783.1:n.2965-45_2965-44del
XR_932836.1:n.3542-45_3542-44del
XR_932837.1:n.3543-1673_3543-1672del
XR_932838.1:n.3543-1673_3543-1672del
XR_933133.1:n.407+394_407+395del
XR_933134.1:n.754+394_754+395del
NM_001351800.1:c.2965-45_2965-44del	NP_001338729.1:n.2965-45_2965-44del
NR_147784.1:n.3169-1673_3169-1672del
XM_011522479.2:c.3274-45_3274-44del	XP_011520781.1:n.3274-45_3274-44del
XM_011522481.3:c.2965-45_2965-44del	XP_011520783.1:n.2965-45_2965-44del
XM_017023212.1:c.3139-45_3139-44del	XP_016878701.1:n.3139-45_3139-44del
XM_017023214.1:c.3307-1673_3307-1672del	XP_016878703.1:n.3307-1673_3307-1672del
XM_024450261.1:c.3343-45_3343-44del	XP_024306029.1:n.3343-45_3343-44del
XR_932836.2:n.3488-45_3488-44del
XR_932837.3:n.3488-1673_3488-1672del
XR_932838.3:n.3488-1673_3488-1672del
NM_001171.6:c.3307-45_3307-44del MANE Select	NP_001162.5:n.3307-45_3307-44del