Canonical Allele Identifier: CA2210133368

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149753_16149754delinsAT , CM000678.2:g.16149753_16149754delinsAT	GRCh38
NC_000016.9:g.16243610_16243611delinsAT , CM000678.1:g.16243610_16243611delinsAT	GRCh37
NC_000016.8:g.16151111_16151112delinsAT	NCBI36
NG_007558.2:g.78718_78719delinsAT
NG_007558.3:g.78864_78865delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1063_*1064delinsAT	ENSP00000483331.2:n.*1063_*1064delinsAT
ENST00000205557.12:c.*379_*380delinsAT MANE Select	ENSP00000205557.7:n.*379_*380delinsAT
ENST00000640696.1:c.1705_1706delinsAT	ENSP00000492197.1:n.1705_1706delinsAT
ENST00000205557.11:c.*379_*380delinsAT	ENSP00000205557.7:n.*379_*380delinsAT
ENST00000576204.5:n.1754_1755delinsAT
ENST00000622290.4:c.*2100_*2101delinsAT	ENSP00000483331.1:n.*2100_*2101delinsAT
NM_001171.5:c.*379_*380delinsAT	NP_001162.4:n.*379_*380delinsAT
XM_011522479.1:c.*379_*380delinsAT	XP_011520781.1:n.*379_*380delinsAT
XM_011522480.1:c.*379_*380delinsAT	XP_011520782.1:n.*379_*380delinsAT
XM_011522481.1:c.*379_*380delinsAT	XP_011520783.1:n.*379_*380delinsAT
XR_933134.1:n.538+5463_538+5464delinsAT
NM_001351800.1:c.*379_*380delinsAT	NP_001338729.1:n.*379_*380delinsAT
NR_147784.1:n.4553_4554delinsAT
XM_011522479.2:c.*379_*380delinsAT	XP_011520781.1:n.*379_*380delinsAT
XM_011522481.3:c.*379_*380delinsAT	XP_011520783.1:n.*379_*380delinsAT
XM_017023212.1:c.*379_*380delinsAT	XP_016878701.1:n.*379_*380delinsAT
XM_024450261.1:c.*379_*380delinsAT	XP_024306029.1:n.*379_*380delinsAT
NM_001171.6:c.*379_*380delinsAT MANE Select	NP_001162.5:n.*379_*380delinsAT