Canonical Allele Identifier: CA2842368209

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150519_16150520del , CM000678.2:g.16150519_16150520del	GRCh38
NC_000016.9:g.16244376_16244377del , CM000678.1:g.16244376_16244377del	GRCh37
NC_000016.8:g.16151877_16151878del	NCBI36
NG_007558.2:g.77953_77954del
NG_007558.3:g.78099_78100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*575+59_*575+60del	ENSP00000483331.2:n.*575+59_*575+60del
ENST00000205557.12:c.4403+59_4403+60del MANE Select	ENSP00000205557.7:n.4403+59_4403+60del
ENST00000640696.1:c.1217+59_1217+60del	ENSP00000492197.1:n.1217+59_1217+60del
ENST00000205557.11:c.4403+59_4403+60del	ENSP00000205557.7:n.4403+59_4403+60del
ENST00000456970.6:c.4028+59_4028+60del	ENSP00000405002.2:n.4028+59_4028+60del
ENST00000576204.5:n.1266+59_1266+60del
ENST00000622290.4:c.*1612+59_*1612+60del	ENSP00000483331.1:n.*1612+59_*1612+60del
NM_001171.5:c.4403+59_4403+60del	NP_001162.4:n.4403+59_4403+60del
XM_011522479.1:c.4370+59_4370+60del	XP_011520781.1:n.4370+59_4370+60del
XM_011522480.1:c.4061+59_4061+60del	XP_011520782.1:n.4061+59_4061+60del
XM_011522481.1:c.4061+59_4061+60del	XP_011520783.1:n.4061+59_4061+60del
XR_933134.1:n.538+6229_538+6230del
NM_001351800.1:c.4061+59_4061+60del	NP_001338729.1:n.4061+59_4061+60del
NR_147784.1:n.4065+59_4065+60del
XM_011522479.2:c.4370+59_4370+60del	XP_011520781.1:n.4370+59_4370+60del
XM_011522481.3:c.4061+59_4061+60del	XP_011520783.1:n.4061+59_4061+60del
XM_017023212.1:c.4235+59_4235+60del	XP_016878701.1:n.4235+59_4235+60del
XM_024450261.1:c.4439+59_4439+60del	XP_024306029.1:n.4439+59_4439+60del
NM_001171.6:c.4403+59_4403+60del MANE Select	NP_001162.5:n.4403+59_4403+60del