Canonical Allele Identifier: CA64813438
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs376375849
gnomAD v4: 2-214978674-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978680dup , CM000664.2:g.214978680dup GRCh38
NC_000002.11:g.215843404dup , CM000664.1:g.215843404dup GRCh37
NC_000002.10:g.215551649dup NCBI36
NG_007074.1:g.164753dup

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4977+129dup MANE Select ENSP00000272895.7:n.4977+129dup
ENST00000272895.11:c.4977+129dup ENSP00000272895.7:n.4977+129dup
ENST00000389661.4:c.4023+129dup ENSP00000374312.4:n.4023+129dup
NM_015657.3:c.4023+129dup NP_056472.2:n.4023+129dup
NM_173076.2:c.4977+129dup NP_775099.2:n.4977+129dup
NR_103740.1:n.5277+129dup
XM_011510951.1:c.4986+129dup XP_011509253.1:n.4986+129dup
XM_011510952.1:c.4986+129dup XP_011509254.1:n.4986+129dup
XM_011510951.2:c.4986+129dup XP_011509253.1:n.4986+129dup
NM_173076.3:c.4977+129dup MANE Select NP_775099.2:n.4977+129dup
NR_103740.2:n.5475+129dup
NM_015657.4:c.4023+129dup NP_056472.2:n.4023+129dup
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