Canonical Allele Identifier: CA2210141200
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155127_16155128delinsAT , CM000678.2:g.16155127_16155128delinsAT GRCh38
NC_000016.9:g.16248984_16248985delinsAT , CM000678.1:g.16248984_16248985delinsAT GRCh37
NC_000016.8:g.16156485_16156486delinsAT NCBI36
NG_007558.2:g.73344_73345delinsAT
NG_007558.3:g.73490_73491delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.649_650delinsAT
ENST00000622290.5:c.*55-97_*55-96delinsAT ENSP00000483331.2:n.*55-97_*55-96delinsAT
ENST00000205557.12:c.3883-97_3883-96delinsAT MANE Select ENSP00000205557.7:n.3883-97_3883-96delinsAT
ENST00000640696.1:c.697-97_697-96delinsAT ENSP00000492197.1:n.697-97_697-96delinsAT
ENST00000205557.11:c.3883-97_3883-96delinsAT ENSP00000205557.7:n.3883-97_3883-96delinsAT
ENST00000456970.6:c.3508-97_3508-96delinsAT ENSP00000405002.2:n.3508-97_3508-96delinsAT
ENST00000576204.5:n.649_650delinsAT
ENST00000622290.4:c.*1092-97_*1092-96delinsAT ENSP00000483331.1:n.*1092-97_*1092-96delinsAT
NM_001171.5:c.3883-97_3883-96delinsAT NP_001162.4:n.3883-97_3883-96delinsAT
XM_011522479.1:c.3850-97_3850-96delinsAT XP_011520781.1:n.3850-97_3850-96delinsAT
XM_011522480.1:c.3541-97_3541-96delinsAT XP_011520782.1:n.3541-97_3541-96delinsAT
XM_011522481.1:c.3541-97_3541-96delinsAT XP_011520783.1:n.3541-97_3541-96delinsAT
XR_932836.1:n.4181-97_4181-96delinsAT
XR_932837.1:n.3919-97_3919-96delinsAT
XR_932838.1:n.3982-97_3982-96delinsAT
XR_933134.1:n.539-4654_539-4653delinsAT
NM_001351800.1:c.3541-97_3541-96delinsAT NP_001338729.1:n.3541-97_3541-96delinsAT
NR_147784.1:n.3545-97_3545-96delinsAT
XM_011522479.2:c.3850-97_3850-96delinsAT XP_011520781.1:n.3850-97_3850-96delinsAT
XM_011522481.3:c.3541-97_3541-96delinsAT XP_011520783.1:n.3541-97_3541-96delinsAT
XM_017023212.1:c.3715-97_3715-96delinsAT XP_016878701.1:n.3715-97_3715-96delinsAT
XM_024450261.1:c.3919-97_3919-96delinsAT XP_024306029.1:n.3919-97_3919-96delinsAT
XR_932836.2:n.4127-97_4127-96delinsAT
XR_932837.3:n.3864-97_3864-96delinsAT
XR_932838.3:n.3927-97_3927-96delinsAT
NM_001171.6:c.3883-97_3883-96delinsAT MANE Select NP_001162.5:n.3883-97_3883-96delinsAT