Canonical Allele Identifier: CA2575924706

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16163068-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163070del , CM000678.2:g.16163070del	GRCh38
NC_000016.9:g.16256927del , CM000678.1:g.16256927del	GRCh37
NC_000016.8:g.16164428del	NCBI36
NG_007558.2:g.65403del
NG_007558.3:g.65549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3430del	ENSP00000483331.2:p.Ala1144ProfsTer11
ENST00000205557.12:c.3430del MANE Select	ENSP00000205557.7:p.Ala1144ProfsTer11
ENST00000640696.1:c.321-1505del	ENSP00000492197.1:n.321-1505del
ENST00000205557.11:c.3430del	ENSP00000205557.7:p.Ala1144ProfsTer11
ENST00000456970.6:c.3132-1505del	ENSP00000405002.2:n.3132-1505del
ENST00000622290.4:c.*639del	ENSP00000483331.1:n.*639del
NM_001171.5:c.3430del	NP_001162.4:p.Ala1144ProfsTer11
XM_011522479.1:c.3397del	XP_011520781.1:p.Ala1133ProfsTer11
XM_011522480.1:c.3088del	XP_011520782.1:p.Ala1030ProfsTer11
XM_011522481.1:c.3088del	XP_011520783.1:p.Ala1030ProfsTer11
XR_932836.1:n.3665del
XR_932837.1:n.3543-1505del
XR_932838.1:n.3543-1505del
XR_933133.1:n.407+227del
XR_933134.1:n.754+227del
NM_001351800.1:c.3088del	NP_001338729.1:p.Ala1030ProfsTer11
NR_147784.1:n.3169-1505del
XM_011522479.2:c.3397del	XP_011520781.1:p.Ala1133ProfsTer11
XM_011522481.3:c.3088del	XP_011520783.1:p.Ala1030ProfsTer11
XM_017023212.1:c.3262del	XP_016878701.1:p.Ala1088ProfsTer11
XM_017023214.1:c.3307-1505del	XP_016878703.1:n.3307-1505del
XM_024450261.1:c.3466del	XP_024306029.1:p.Ala1156ProfsTer11
XR_932836.2:n.3611del
XR_932837.3:n.3488-1505del
XR_932838.3:n.3488-1505del
NM_001171.6:c.3430del MANE Select	NP_001162.5:p.Ala1144ProfsTer11