Canonical Allele Identifier: CA2695222848

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165825_16165827del , CM000678.2:g.16165825_16165827del	GRCh38
NC_000016.9:g.16259682_16259684del , CM000678.1:g.16259682_16259684del	GRCh37
NC_000016.8:g.16167183_16167185del	NCBI36
NG_007558.2:g.62648_62650del
NG_007558.3:g.62794_62796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3105_3107del	ENSP00000483331.2:p.Phe1036del
ENST00000205557.12:c.3105_3107del MANE Select	ENSP00000205557.7:p.Phe1036del
ENST00000640696.1:c.120_122del	ENSP00000492197.1:p.Phe41del
ENST00000205557.11:c.3105_3107del	ENSP00000205557.7:p.Phe1036del
ENST00000456970.6:c.2930_2932del	ENSP00000405002.2:n.2930_2932del
ENST00000622290.4:c.*314_*316del	ENSP00000483331.1:n.*314_*316del
NM_001171.5:c.3105_3107del	NP_001162.4:p.Phe1036del
XM_011522479.1:c.3072_3074del	XP_011520781.1:p.Phe1025del
XM_011522480.1:c.2763_2765del	XP_011520782.1:p.Phe922del
XM_011522481.1:c.2763_2765del	XP_011520783.1:p.Phe922del
XR_932836.1:n.3340_3342del
XR_932837.1:n.3341_3343del
XR_932838.1:n.3341_3343del
NM_001351800.1:c.2763_2765del	NP_001338729.1:p.Phe922del
NR_147784.1:n.2967_2969del
XM_011522479.2:c.3072_3074del	XP_011520781.1:p.Phe1025del
XM_011522481.3:c.2763_2765del	XP_011520783.1:p.Phe922del
XM_017023212.1:c.2937_2939del	XP_016878701.1:p.Phe980del
XM_017023214.1:c.3105_3107del	XP_016878703.1:p.Phe1036del
XM_024450261.1:c.3141_3143del	XP_024306029.1:p.Phe1048del
XR_932836.2:n.3286_3288del
XR_932837.3:n.3286_3288del
XR_932838.3:n.3286_3288del
NM_001171.6:c.3105_3107del MANE Select	NP_001162.5:p.Phe1036del