Canonical Allele Identifier: CA2210134656

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150536_16150537delinsCT , CM000678.2:g.16150536_16150537delinsCT	GRCh38
NC_000016.9:g.16244393_16244394delinsCT , CM000678.1:g.16244393_16244394delinsCT	GRCh37
NC_000016.8:g.16151894_16151895delinsCT	NCBI36
NG_007558.2:g.77935_77936delinsAG
NG_007558.3:g.78081_78082delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*575+41_*575+42delinsAG	ENSP00000483331.2:n.*575+41_*575+42delinsAG
ENST00000205557.12:c.4403+41_4403+42delinsAG MANE Select	ENSP00000205557.7:n.4403+41_4403+42delinsAG
ENST00000640696.1:c.1217+41_1217+42delinsAG	ENSP00000492197.1:n.1217+41_1217+42delinsAG
ENST00000205557.11:c.4403+41_4403+42delinsAG	ENSP00000205557.7:n.4403+41_4403+42delinsAG
ENST00000456970.6:c.4028+41_4028+42delinsAG	ENSP00000405002.2:n.4028+41_4028+42delinsAG
ENST00000576204.5:n.1266+41_1266+42delinsAG
ENST00000622290.4:c.*1612+41_*1612+42delinsAG	ENSP00000483331.1:n.*1612+41_*1612+42delinsAG
NM_001171.5:c.4403+41_4403+42delinsAG	NP_001162.4:n.4403+41_4403+42delinsAG
XM_011522479.1:c.4370+41_4370+42delinsAG	XP_011520781.1:n.4370+41_4370+42delinsAG
XM_011522480.1:c.4061+41_4061+42delinsAG	XP_011520782.1:n.4061+41_4061+42delinsAG
XM_011522481.1:c.4061+41_4061+42delinsAG	XP_011520783.1:n.4061+41_4061+42delinsAG
XR_933134.1:n.538+6246_538+6247delinsCT
NM_001351800.1:c.4061+41_4061+42delinsAG	NP_001338729.1:n.4061+41_4061+42delinsAG
NR_147784.1:n.4065+41_4065+42delinsAG
XM_011522479.2:c.4370+41_4370+42delinsAG	XP_011520781.1:n.4370+41_4370+42delinsAG
XM_011522481.3:c.4061+41_4061+42delinsAG	XP_011520783.1:n.4061+41_4061+42delinsAG
XM_017023212.1:c.4235+41_4235+42delinsAG	XP_016878701.1:n.4235+41_4235+42delinsAG
XM_024450261.1:c.4439+41_4439+42delinsAG	XP_024306029.1:n.4439+41_4439+42delinsAG
NM_001171.6:c.4403+41_4403+42delinsAG MANE Select	NP_001162.5:n.4403+41_4403+42delinsAG