Canonical Allele Identifier: CA2662978460
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-214980428-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980432_214980433del , CM000664.2:g.214980432_214980433del GRCh38
NC_000002.11:g.215845156_215845157del , CM000664.1:g.215845156_215845157del GRCh37
NC_000002.10:g.215553401_215553402del NCBI36
NG_007074.1:g.162998_162999del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4740+53_4740+54del MANE Select ENSP00000272895.7:n.4740+53_4740+54del
ENST00000272895.11:c.4740+53_4740+54del ENSP00000272895.7:n.4740+53_4740+54del
ENST00000389661.4:c.3786+53_3786+54del ENSP00000374312.4:n.3786+53_3786+54del
NM_015657.3:c.3786+53_3786+54del NP_056472.2:n.3786+53_3786+54del
NM_173076.2:c.4740+53_4740+54del NP_775099.2:n.4740+53_4740+54del
NR_103740.1:n.5040+53_5040+54del
XM_011510951.1:c.4749+53_4749+54del XP_011509253.1:n.4749+53_4749+54del
XM_011510952.1:c.4749+53_4749+54del XP_011509254.1:n.4749+53_4749+54del
XM_011510951.2:c.4749+53_4749+54del XP_011509253.1:n.4749+53_4749+54del
NM_173076.3:c.4740+53_4740+54del MANE Select NP_775099.2:n.4740+53_4740+54del
NR_103740.2:n.5238+53_5238+54del
NM_015657.4:c.3786+53_3786+54del NP_056472.2:n.3786+53_3786+54del
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