Canonical Allele Identifier: CA919666173

Gene: ABCC6

Linked Data

• dbSNP Id: rs1567475920
• gnomAD v4: 16-16163065-GGGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163069_16163074del , CM000678.2:g.16163069_16163074del	GRCh38
NC_000016.9:g.16256926_16256931del , CM000678.1:g.16256926_16256931del	GRCh37
NC_000016.8:g.16164427_16164432del	NCBI36
NG_007558.2:g.65401_65406del
NG_007558.3:g.65547_65552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3428_3433del	ENSP00000483331.2:p.Gln1143_Ala1144del
ENST00000205557.12:c.3428_3433del MANE Select	ENSP00000205557.7:p.Gln1143_Ala1144del
ENST00000640696.1:c.321-1507_321-1502del	ENSP00000492197.1:n.321-1507_321-1502del
ENST00000205557.11:c.3428_3433del	ENSP00000205557.7:p.Gln1143_Ala1144del
ENST00000456970.6:c.3132-1507_3132-1502del	ENSP00000405002.2:n.3132-1507_3132-1502del
ENST00000622290.4:c.*637_*642del	ENSP00000483331.1:n.*637_*642del
NM_001171.5:c.3428_3433del	NP_001162.4:p.Gln1143_Ala1144del
XM_011522479.1:c.3395_3400del	XP_011520781.1:p.Gln1132_Ala1133del
XM_011522480.1:c.3086_3091del	XP_011520782.1:p.Gln1029_Ala1030del
XM_011522481.1:c.3086_3091del	XP_011520783.1:p.Gln1029_Ala1030del
XR_932836.1:n.3663_3668del
XR_932837.1:n.3543-1507_3543-1502del
XR_932838.1:n.3543-1507_3543-1502del
XR_933133.1:n.407+226_407+231del
XR_933134.1:n.754+226_754+231del
NM_001351800.1:c.3086_3091del	NP_001338729.1:p.Gln1029_Ala1030del
NR_147784.1:n.3169-1507_3169-1502del
XM_011522479.2:c.3395_3400del	XP_011520781.1:p.Gln1132_Ala1133del
XM_011522481.3:c.3086_3091del	XP_011520783.1:p.Gln1029_Ala1030del
XM_017023212.1:c.3260_3265del	XP_016878701.1:p.Gln1087_Ala1088del
XM_017023214.1:c.3307-1507_3307-1502del	XP_016878703.1:n.3307-1507_3307-1502del
XM_024450261.1:c.3464_3469del	XP_024306029.1:p.Gln1155_Ala1156del
XR_932836.2:n.3609_3614del
XR_932837.3:n.3488-1507_3488-1502del
XR_932838.3:n.3488-1507_3488-1502del
NM_001171.6:c.3428_3433del MANE Select	NP_001162.5:p.Gln1143_Ala1144del