Canonical Allele Identifier: CA2210143293

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169774_16169780delinsCAGAGGA , CM000678.2:g.16169774_16169780delinsCAGAGGA	GRCh38
NC_000016.9:g.16263631_16263637delinsCAGAGGA , CM000678.1:g.16263631_16263637delinsCAGAGGA	GRCh37
NC_000016.8:g.16171132_16171138delinsCAGAGGA	NCBI36
NG_007558.2:g.58692_58698delinsTCCTCTG
NG_007558.3:g.58838_58844delinsTCCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2861_2867delinsTCCTCTG	ENSP00000483331.2:p.Phe954=
ENST00000205557.12:c.2861_2867delinsTCCTCTG MANE Select	ENSP00000205557.7:p.Phe954=
ENST00000205557.11:c.2861_2867delinsTCCTCTG	ENSP00000205557.7:p.Phe954=
ENST00000456970.6:c.2686_2692delinsTCCTCTG	ENSP00000405002.2:n.2686_2692delinsTCCTCTG
ENST00000622290.4:c.*70_*76delinsTCCTCTG	ENSP00000483331.1:n.*70_*76delinsTCCTCTG
NM_001171.5:c.2861_2867delinsTCCTCTG	NP_001162.4:p.Phe954=
XM_011522479.1:c.2828_2834delinsTCCTCTG	XP_011520781.1:p.Phe943=
XM_011522480.1:c.2519_2525delinsTCCTCTG	XP_011520782.1:p.Phe840=
XM_011522481.1:c.2519_2525delinsTCCTCTG	XP_011520783.1:p.Phe840=
XR_932836.1:n.3096_3102delinsTCCTCTG
XR_932837.1:n.3097_3103delinsTCCTCTG
XR_932838.1:n.3097_3103delinsTCCTCTG
NM_001351800.1:c.2519_2525delinsTCCTCTG	NP_001338729.1:p.Phe840=
NR_147784.1:n.2723_2729delinsTCCTCTG
XM_011522479.2:c.2828_2834delinsTCCTCTG	XP_011520781.1:p.Phe943=
XM_011522481.3:c.2519_2525delinsTCCTCTG	XP_011520783.1:p.Phe840=
XM_017023212.1:c.2693_2699delinsTCCTCTG	XP_016878701.1:p.Phe898=
XM_017023214.1:c.2861_2867delinsTCCTCTG	XP_016878703.1:p.Phe954=
XM_024450261.1:c.2897_2903delinsTCCTCTG	XP_024306029.1:p.Phe966=
XR_932836.2:n.3042_3048delinsTCCTCTG
XR_932837.3:n.3042_3048delinsTCCTCTG
XR_932838.3:n.3042_3048delinsTCCTCTG
NM_001171.6:c.2861_2867delinsTCCTCTG MANE Select	NP_001162.5:p.Phe954=