Canonical Allele Identifier: CA2155953835
Gene: SERPINA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94380870_94380873delinsCCTT , CM000676.2:g.94380870_94380873delinsCCTT GRCh38
NC_000014.8:g.94847207_94847210delinsCCTT , CM000676.1:g.94847207_94847210delinsCCTT GRCh37
NC_000014.7:g.93916960_93916963delinsCCTT NCBI36
NG_008290.1:g.14820_14823delinsAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000393087.9:c.915_917+1delinsAAGG
ENST00000636712.1:c.915_917+1delinsAAGG
ENST00000355814.8:c.915_917+1delinsAAGG
ENST00000393087.8:c.915_917+1delinsAAGG
ENST00000393088.8:c.915_917+1delinsAAGG
ENST00000402629.1:c.915_917+1delinsAAGG
ENST00000404814.8:c.915_917+1delinsAAGG
ENST00000437397.5:c.915_917+1delinsAAGG
ENST00000440909.5:c.915_917+1delinsAAGG
ENST00000448921.5:c.915_917+1delinsAAGG
ENST00000449399.7:c.915_917+1delinsAAGG
ENST00000489769.1:c.915_918delinsAAGG ENSP00000451525.1:p.Arg305=
NM_000295.4:c.915_917+1delinsAAGG
NM_001002235.2:c.915_917+1delinsAAGG
NM_001002236.2:c.915_917+1delinsAAGG
NM_001127700.1:c.915_917+1delinsAAGG
NM_001127701.1:c.915_917+1delinsAAGG
NM_001127702.1:c.915_917+1delinsAAGG
NM_001127703.1:c.915_917+1delinsAAGG
NM_001127704.1:c.915_917+1delinsAAGG
NM_001127705.1:c.915_917+1delinsAAGG
NM_001127706.1:c.915_917+1delinsAAGG
NM_001127707.1:c.915_917+1delinsAAGG
XM_017021370.1:c.915_917+1delinsAAGG
NM_000295.5:c.915_917+1delinsAAGG
NM_001002235.3:c.915_917+1delinsAAGG
NM_001002236.3:c.915_917+1delinsAAGG
NM_001127700.2:c.915_917+1delinsAAGG
NM_001127701.2:c.915_917+1delinsAAGG
NM_001127702.2:c.915_917+1delinsAAGG
NM_001127703.2:c.915_917+1delinsAAGG
NM_001127704.2:c.915_917+1delinsAAGG
NM_001127705.2:c.915_917+1delinsAAGG
NM_001127706.2:c.915_917+1delinsAAGG
NM_001127707.2:c.915_917+1delinsAAGG