Canonical Allele Identifier: CA2806037433

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150874_16150875insACTT , CM000678.2:g.16150874_16150875insACTT	GRCh38
NC_000016.9:g.16244731_16244732insACTT , CM000678.1:g.16244731_16244732insACTT	GRCh37
NC_000016.8:g.16152232_16152233insACTT	NCBI36
NG_007558.2:g.77597_77598insAAGT
NG_007558.3:g.77743_77744insAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-103_*381-102insAAGT	ENSP00000483331.2:n.*381-103_*381-102insAAGT
ENST00000205557.12:c.4209-103_4209-102insAAGT MANE Select	ENSP00000205557.7:n.4209-103_4209-102insAAGT
ENST00000640696.1:c.1023-103_1023-102insAAGT	ENSP00000492197.1:n.1023-103_1023-102insAAGT
ENST00000205557.11:c.4209-103_4209-102insAAGT	ENSP00000205557.7:n.4209-103_4209-102insAAGT
ENST00000456970.6:c.3834-103_3834-102insAAGT	ENSP00000405002.2:n.3834-103_3834-102insAAGT
ENST00000576204.5:n.1072-103_1072-102insAAGT
ENST00000622290.4:c.*1418-103_*1418-102insAAGT	ENSP00000483331.1:n.*1418-103_*1418-102insAAGT
NM_001171.5:c.4209-103_4209-102insAAGT	NP_001162.4:n.4209-103_4209-102insAAGT
XM_011522479.1:c.4176-103_4176-102insAAGT	XP_011520781.1:n.4176-103_4176-102insAAGT
XM_011522480.1:c.3867-103_3867-102insAAGT	XP_011520782.1:n.3867-103_3867-102insAAGT
XM_011522481.1:c.3867-103_3867-102insAAGT	XP_011520783.1:n.3867-103_3867-102insAAGT
XR_933134.1:n.538+6584_538+6585insACTT
NM_001351800.1:c.3867-103_3867-102insAAGT	NP_001338729.1:n.3867-103_3867-102insAAGT
NR_147784.1:n.3871-103_3871-102insAAGT
XM_011522479.2:c.4176-103_4176-102insAAGT	XP_011520781.1:n.4176-103_4176-102insAAGT
XM_011522481.3:c.3867-103_3867-102insAAGT	XP_011520783.1:n.3867-103_3867-102insAAGT
XM_017023212.1:c.4041-103_4041-102insAAGT	XP_016878701.1:n.4041-103_4041-102insAAGT
XM_024450261.1:c.4245-103_4245-102insAAGT	XP_024306029.1:n.4245-103_4245-102insAAGT
NM_001171.6:c.4209-103_4209-102insAAGT MANE Select	NP_001162.5:n.4209-103_4209-102insAAGT